UKGTN Guide to Specialised Services for Rare Genetic Disorders

Transcription

promoting gene testing
UKGTN Guide
to specialised services
for rare genetic
disorders
August 2013
(revised December 2013)
Updated August 2015
Aberdeen
Dundee
Glasgow
Centres of expertise
Edinburgh
This is a guide to specialised
services for rare genetic
disorders that are listed on the
Directory of Genetic Disorders/
Genes for Diagnostic Testing.
How?
Why?
•
Following a request by Genetic Alliance UK to assist
patients in finding expert advice for their conditions
•
To aid clinicians from a broad range of medical
specialties to collaborate with colleagues who have
particular specialist expertise, to enable them to
determine the best care for their patients.
Leeds
Manchester
A working group was established to oversee the
development of the guide
•
Regional Genetics laboratories validated the genetic
testing data
•
Regional Genetics Clinical Services
information about joint specialist clinics
•
Patient representatives from UKGTN Clinical &
Scientific Advisory Group & patient groups affiliated
to Genetic Alliance UK were asked to review the
information about clinical referrers for different tests.
It was produced:
Newcastle
Belfast
•
provided
Structure
The guide:
•
Lists clinics by specialty
•
Details tests available by medical specialty and by
laboratory.
Liverpool
Key findings
Sheffield
Nottingham
Leicester
Birmingham
Cambridge
Oxford
Cardiff
London
Bristol
Salisbury
4000 joint clinics (with Clinical
Genetics) are held across the UK
per year, comprising 300 different
clinics addressing specific genetic
disorders
More than 90% of the tests
listed on the UKGTN directory
are provided by three or less
laboratories
28 laboratories are the sole
provider for a total of 489 tests for
specified disorders (71% of tests
listed on the UKGTN directory)
19% of tests are provided by 2-3
providers
Exeter
Exeter
Different laboratories have developed specialist expertise in different medical
areas for example cardiology, cancer or paediatric endocrinology
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1
Contents
Foreword4
3.14Hepatology
54
Introduction5
3.15 Histopathology & Coroner’s service
57
1. Data sources and method of analysis
6
3.16 Metabolic Medicine
59
1.1 Laboratory data
6
3.17Neonatology
64
1.2 Laboratory Subspecialisation
6
3.18Nephrology
66
1.3 Joint Specialty Clinics
7
3.19Neurology
70
2. Clinical Genetics
9
3.20 Obstetrics & Fetal Medicine
83
3. Subspecialisation
15
3.21Ophthalmology
86
3.1
Audiology 16
3.22Orthopaedics
91
3.2 Cancer 18
3.23Paediatrics
92
3.3 Cardiology 23
3.23.1 Community Paediatrics98
3.4 Chemical Pathology
28
3.24 Respiratory Medicine and Cystic Fibrosis
100
3.5 Cleft Clinics
30
3.25Rheumatology
102
3.6 Clinical Haematology
31
3.26 Surgical Dentistry (paediatric)
104
3.7 Clinical Immunology
34
3.27Urology
105
3.8 Craniofacial, ENT & Neurosurgery
36
Appendix 1
107
3.9Dermatology
38
Appendix 2
116
3.10Endocrinology
42
3.11Gastroenterology
50
3.12 Geriatric Medicine & Old Age Psychiatry
52
3.13Gynaecology
53
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3
Foreword
This is the first revision of the ‘UK Genetic Testing Network
(UKGTN) Guide to centres with specialist expertise for
rare genetic disorders’ published in August 2013. The
purpose of the Guide is to assist patients in finding
expert advice for their conditions, and in addition to aid
clinicians from a broad range of medical specialties to
collaborate with colleagues to enable them to determine
the best care for their patients.
The laboratory data presented is downloaded from
the UKGTN Directory of Genetic Disorders/Genes for
Diagnostic Testing (www.ukgtn.nhs.uk) which is the
repository of genetic tests that are commissioned by the
specialised services commissioners. This Guide provides
information about the tests that are available from the
member laboratories and that have been approved
through the UKGTN test evaluation process. All tests
Introduction
that have been recommended for NHS service and
approved by the UKGTN up to March 2015 are included in
this Guide. The Guide also provides information about
clinics that are run jointly with regional clinical genetics
teams.
This guide does not list other (non-UKGTN approved)
tests offered by the member laboratories. Details
of these tests may be obtained by contacting the
individual laboratories (Appendix 1).
Other specialised clinics that are led by the specialty
concerned (and are not held jointly with clinical
genetics) will be added to the next version of this
guide. The contact details for the Regional Clinical
Genetics Services are available (Appendix 2).
There are more than 6000 single gene disorders of
which the genetic cause is known for around 4500’. The
UK Genetic Testing Network (UKGTN) is a collaborative
group of genetic testing laboratories, clinicians and
commissioners of NHS genetic services with involvement
from patient support groups (www.ukgtn.nhs.uk).
The UK Genetic Testing Network includes 31 laboratories
which offer a range of specialist services and/or provide
molecular genetic testing for a regional population
(aligned with a clinical genetics centre). Testing is provided
for patients referred from >40 medical specialties as well
as clinical genetics. The laboratory network provides
testing for over 600 single gene disorders, with ~50
new tests added each year through the genetic test
evaluation and commissioning process. This extensive
test repertoire is achieved by subspecialisation, with
each laboratory providing testing for 1 to >100 disorders.
Testing is distributed widely amongst the laboratories.
Twenty-eight laboratories are the unique provider for one
or more disorders and the majority of services provided
(489, 71%) are unique to single providers. A further 132
disorders (19% of the services) have 2-3 providers from
across the network. Testing for less than 10% of disorders
is available in >3 provider laboratories. Some local service
provision does occur and this will affect these figures.
Next Generation Sequencing (NGS) technology has
facilitated the introduction of panel tests where multiple
genes are tested simultaneously. For disorders where it is
difficult to distinguish clinically between one of a number
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of genes likely to give rise to that disorder, testing all the
relevant genes at one time, rather than sequentially,
offers major benefits for the patient and clinician. It may
give an answer more quickly as well as being more cost
effective.
The UKGTN first evaluated panel tests that used Next
Generation Sequencing Technology (NGS) in 2011.
Between 2011 to March 2015 UKGTN has approved and
recommended 55 NGS panel tests of which there are 106
sub panels. A sub panel is defined as a test for a number
of disorders that present with similar clinical phenotypes.
A test using Whole Genome Sequencing (WGS) was also
recommended in this period. These NGS panel tests and
the WGS test is included in this Guide.
Underpinning the subspecialisation of laboratory
services is often clinical and/or research expertise that
enables a laboratory to provide a cutting edge service for
a disorder. The 23 Regional Clinical Genetics services are
involved in over 4000 joint clinics, a summary of which
is presented highlighting the multidisciplinary clinical
support that is available in many subspecialty areas.
The support of research teams and clinical teams outside
genetics is also crucial to the genetics laboratories in
the development of new services and interpretation
of results. The breadth of services offered indicates
that many clinical and laboratory genetic services are
integrated into the provision of diagnoses for mainstream
medical specialties.
5
1.Data sources and method of
analysis
1.1 Laboratory data
1.2 Laboratory Subspecialisation
The data from 31 laboratories was analysed using
information from the UKGTN website downloaded in
May 2015 together with information on disorders that
had been recommended for funding in the March 2015
Genetic Test Evaluation process. All member laboratories
have been requested to review and update their entries
on the UKGTN website to inform this Guide.
For each of the UKGTN listed conditions/NGS panel tests
a number of clinical specialties (as described in the NHS
Data Dictionary) were assigned to allow the information
in the guide to be organised by clinical subspecialty.
Where available this data was taken from the ‘Testing
Criteria’ for a disorder/test. Clinical specialties assigned
to a disorder/test are those most likely to be involved
with ordering genetic testing for patients rather than an
exhaustive list of all the specialties that could be involved
in a patient’s management and treatment. Laboratory,
clinical and patient representatives were involved in
the validation of the baseline information for the Guide
published in August 2013.
Detailed information about the testing offered for the
disorders listed is available on the UKGTN website www.
ukgtn.nhs.uk. The UKGTN Directory of Genetic Disorders/
Genes for Diagnostic Testing is the repository of genetic
tests that will be commissioned by the specialised
services commissioners.
Historically the entries on the UKGTN website were
referred to by the disorder name with a single associated
gene test. However as both single gene and gene panel
tests can be relevant to a wider range of disorders, the
entries may refer to a clinical phenotype rather than a
single disorder.
6
To interrogate subspecialisation across the network two
categories were used:
1. Three or fewer labs offer the disorder/test
2. Four or more labs offer the disorder/test
From this analysis it is apparent that extensive subspecialisation has occurred across the UKGTN network
laboratories.
In the 2013 guide a small number of tests were
represented in multiple specialties and sub-specialties.
These tests are still represented under their major
specialty but the sub-specialty categories have been
removed from the 2015 update. These sub-specialties
include Anaesthetics, Biochemistry, Clinical Microbiology,
Clinical Pharmacology, Diabetic Medicine, Intensive
Medicine, Paediatric Infectious Disease, Stroke Medicine.
1.3 Joint Specialty Clinics
A joint specialty clinic is one where clinical and/
or counselling or nursing staff from more than one
discipline are involved in the diagnosis and management
of a patient.
Section 2 details tests where clinical geneticists are the
major or only referrer although it is recognised that
clinical geneticists would order the majority of the tests
listed in the guide.
The 23 Regional Clinical Genetics Services were asked to
complete a proforma about their joint specialty clinics
provision. Their replies were collated and this information
is presented in section 3 of the guide highlighting the
multidisciplinary clinical support that is available in many
subspecialty areas.
Section 3 details the subspecialisation for adult and
paediatric disorders/NGS panel tests, listing the
laboratory providers and associated Joint Specialty
Clinics involving Clinical Genetics Services.
Clinics highlighted in yellow are funded as part of a
Highly Specialised Service (previously referred to as
National Specialised Commissioning Team and/or
National Commissioning Group commissioned).
As indicated in each sub-specialisation, local
arrangements may exist for the provision of tests (in
italics), and some tests may be offered by non-UKGTN
member laboratories. The top quartile of laboratory
providers (ranked by number of tests offered by ≤3
providers) is highlighted in blue.
www.ukgtn.nhs.uk
7
This section details
tests where clinical
geneticists are
the major or only
referrer.
It is recognised that clinical geneticists will order most
of the tests listed in this guide and therefore rather
than listing almost all the tests/disorders in this section,
the clinical genetics section lists only those disorders
where clinical geneticists are likely to be the major/only
requestor.
There are two types of data presented:
1. A chart summarising the total number of tests that
each laboratory offers and highlighting the tests
where less than 3 laboratories are the provider and
those where 4 or more laboratories are the provider
of the tests.
2. A table showing the list of tests where clinical
geneticists are the main or only referrer and the
laboratories that provide testing for these specified
tests/disorders. The top quartile (ranked by number
of disorders offered by ≤3 providers) of specialist
providers are highlighted in blue.
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9
Clinical genetics tests offered and laboratory providers
Laboratories offering adult and paediatric tests where clinical genetics is the
major/only requestor
Top quartile of laboratory providers (ranked by number of tests offered by ≤3 providers) is highlighted in blue
Disorders A – D
Clinical Genetics
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Clinical Geneticists are likely to order almost all of the tests listed in this guide. However, Clinical Geneticists are expected
to be the major/only requestor for tests in this Clinical Genetics speciality section.
3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency Of
Clinical Genetics
46, XY Sex Reversal 1
46,XY Sex Reversal 3
Aarskog-Scott Syndrome
Exeter
Acrodysostosis With or Without Multiple Hormone Resistance
Acromicric Dysplasia and Geleophysic Dysplasia
Oxford RGC
Adenomatous Polyposis 1, Familial
Sheffield
Adenomatous Polyposis, 2, Familial
Alagille syndrome 1
London GOSH
Alagille Syndrome 2
Leeds
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
London GSTT
Alzheimer Disease 1, Familial
Alzheimer Disease 3
Birmingham RGC
Apert Syndrome (NIPD)
Cambridge
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Salisbury
Ataxia-Telangiectasia (Cytogenetic Laboratory Test)
Baraitser-Winter Syndrome
Bristol
Beare-Stevenson Cutis Gyrata Syndrome
London St Georges
Manchester
Wales Porphyria
≤3 labs offer this test
Newcastle RGC
>3 labs offer this test
London KGC
Birt-Hogg-Dube Syndrome
Bowel Cancer including HNPCC phenotype or Polyposis, Familial,
14 Gene Panel
Branchiotorenal Syndrome/ Branchiootic Syndrome
Breast/Ovarian Cancer 13, Familial , Gene Panel (Option A)
Breast/Ovarian Cancer, Familial, 13 Gene Panel (Option B)
Brown-Vialetto-Van Laere Syndrome
Cantu Syndrome
Liverpool
Carpenter Syndrome
Glasgow
Charge Syndrome
Chondrodysplasia Punctata 1, X-Linked Recessive
Wales Cardiff
Chondrodysplasia Punctata 2, X-Linked Dominant
Dundee
Chondrodysplasia Punctata 5 Gene Panel
Chromosome Breakage Disorders 61 Gene Panel
Edinburgh
Coffin-Lowry Syndrome
Nottingham
Colorectal Cancer, Familial, 10 Gene Panel
Combined Pituitary Hormone Deficiency 5 Gene Panel
London UCLH Biochem
Congenital Generalised Lipodystrophy 5 Gene Panel
Aberdeen
Congenital Hypothyroidism 8 gene panel
Congenital Muscular Dystrophy 31 Gene Panel Test
Belfast
Cornelia De Lange Syndrome 1
0
10
20
30
40
Costello Syndrome
50
Cowden Disease
Number of tests
Craniofrontonasal Syndrome
Craniosynostosis 3
Craniosynostosis 4
Craniosynostosis And Dental Anomalies
Crouzon Syndrome
Cylindromatosis, Trichoepitheliomas and Spiradenoma, Familial
Cystic Fibrosis (NIPD)
Denys-Drash Syndrome
Distal Arthrogryposis
Duane-Radial Ray Syndrome
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11
Disorders E - Le
Disorders Li - Pi
Clinical Genetics
Clinical Genetics
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Li-Fraumeni Syndrome 1
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant and
Recessive
Lipodystrophy Types 1 and 2, Congenital Generalized
Ab
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Lo
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ch LH s
Ne es B
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Ab
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Ca
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Lo
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Lowe Oculocerebrorenal Syndrome
Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency
Lubs X-Linked Mental Retardation Syndrome
Ellis-Van Creveld Syndrome
Lynch Syndrome (HNPCC) and Familial Colorectal Cancer
Endocrine Neoplasia Syndromes 4 Gene Panel
Male Infertility Due To Y Chromosome Deletions
Endplate Acetylcholinesterase Deficiency
Malignant Melanoma
Eye Movement Disorders 8 Gene Panel Test
Mandibulofacial Dysostosis, Guion-Almeida Type
Familial Glucocorticoid Deficiency 5 Gene Panel
Marfan Syndrome
Familial Isolated Hypoparathyroidism 4 Gene Panel
MCAP and Clove Syndrome
Familial Isolated Primary Hyperparathyroidism 8 Gene Panel
Meckel Syndrome
Familial Pheochromocytoma and Paraganglioma 10 Gene
Melanoma 3 Gene Panel
Fanconi Anaemia 16 Gene Panel
Melnick-Needles Syndrome
Fanconi Anemia, Complementation Group A
Mental Retardation, X-Linked, Syndromic, Christianson Type
Fanconi Anemia, Complementation Group C
Mental Retardation, X-Linked, With Or Without Seizures, ARXrelated
Fanconi-Bickel Syndrome
Fatty Acid Oxidation/Ketogenesis disorders 20 gene panel
Mental Retardation, X-Linked, With Short Stature, Hypogonadism,
And Abnormal Gait
Mismatch Repair Cancer Syndrome
Fatty Acid Oxidation/Ketolysis disorders 2 gene panel
Feingold Syndrome 1
FGFR3-Related Skeletal Dysplasias Panel Test (NIPD)
Mowat-Wilson Syndrome
Fibrodysplasia Ossificans Progressiva
Muenke Syndrome
Frasier Syndrome
Muir-Torre Syndrome
Frontometaphyseal Dysplasia
Multiple Pterygium Syndrome: Escobar Variant and Lethal Type
Galactosialidosis
Nail-Patella Syndrome
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis
Neurofibromatosis, Schwannomas and Café Au Lait 5 Gene Panel
Gender Assignment 13 gene panel
Nicolaides-Baraitser Syndrome
Generalised Arterial Calcification of Infancy 2 Gene Panel
Nonsyndromic Holoprosencephaly 6 Gene Panel
Genital Anomalies and suspected Adrenal problems 12 gene panel
Nucleotide Excision Repair Disorder 16 Gene Panel
Genitopatellar and Ohdo Syndrome
Genitopatellar and Ohdo Syndrome
Opitz-Kaveggia Syndrome
Osteogenesis Imperfecta Types VII, VIII And IX
Gonadal dysgenesis with gonadal failure 12 gene panel
Osteogenesis Imperfecta, Type II
Hajdu-Cheney Syndrome
Hemidysplasia with Ichthyosiform Erythroderma and Limb
Defects, Congenital
Hemophagocytic Lymphohistiocytosis, Familial, 2
Osteogenesis Imperfecta, Type III
Osteogenesis Imperfecta, Type IV
Osteopetrosis, Autosomal Recessive
Holoprosencephaly 6 Gene Panel Test
Osteoporosis-Pseudoglioma Syndrome
Holt-Oram Syndrome
Otopalatodigital Syndrome, Type I
Hyperammonaemia/Urea Cycle Disorders 14 Gene Panel Test
Hyperphosphatemic & Normophosphatemic Familial Tumoral
Calcinosis 4 Gene Panel
Hyperphosphatemic Tumoral Calcinosis, Familial
Otopalatodigital Syndrome, Type II
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia
Parietal Foramina
Pachyonychia Congenita, Type 1
Pachyonychia Congenita, Type 2
Pancreatic Cancer, Familial, 8 Gene Panel
Hypophosphateamic Rickets 5 Gene Panel
Intrauterine Growth Retardation, Metaphyseal Dysplasia,
Adrenal Hypoplasia Congenita, and Genital Anomalies
Jackson-Weiss Syndrome
Peroxisome Disorders 24 Gene Panel Test
Peutz-Jeghers Syndrome
Pfeiffer Syndrome
Phaeochromocytoma and Paragangliomas, Familial, 11 Gene Panel
Phaeochromocytomas and Paragangliomas, Familial, 9 Gene Panel
Joubert Syndrome and Related Disorders (JSRD) 18 Gene Panel
Juvenile Polyposis Syndrome
Pitt-Hopkins Syndrome
Kabuki Syndrome
Pituitary Cancer, Parathyroid and Hypercalcemia 7 Gene Panel
KBG Syndrome
Legius Syndrome
Leiomyomatosis And Renal Cell Cancer, Hereditary
Leri-Weill Dyschondrosteosis
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13
3. Subspecialisation
Disorders Po-Z
Clinical Genetics
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M
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Clinical Genetics tests offered and laboratory providers
Polydactyly, Preaxial IV
Polyposis Syndrome, Hereditary Mixed, 1
Pontocerebellar Hypoplasia 12 Gene Panel Test
Porencephaly
Porphyria Cutanea Tarda
Porphyria Variegata
Porphyria, Acute Intermittent
Porphyria, Congenital Erythropoietic
Primary Pigmented Nodular Adrenocortical Disease
Primary Pigmented Nodular Adrenocortical Disease 3 Gene
Primary Pulmonary Hypertension (Familial)
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly
Syndrome
Protoporphyria, Erythropoietic
Tests are assigned
to medical
specialties that
are most likely to
be involved with
ordering genetic
testing for patients.
Pseudohypoaldosteronism type II 4 Gene Panel
There are up to three types of data presented for each
medical specialty:
1. A list of joint specialist clinics with information
about the location of the clinics, the lead medical
specialty and the number of clinics held in a year.
Clinics highlighted in yellow are funded as part of
a Highly Specialised Service (previously referred to
as National Specialised Commissioning Team and/or
National Commissioning Group commissioned).
2. A chart summarising the total number of tests that
each laboratory provides.
3. A table showing the list of tests that fall within that
specialty and the laboratories that provide testing
for these specified tests. The top quartile (ranked
by number of disorders offered by ≤3 providers) of
specialist providers are highlighted in blue.
Not all the medical specialties had joint specialist clinics.
Renal Cancer, Familial, 10 Gene Panel
Rhabdomyolysis/Metabolic Myopathies 30 Gene Panel Test
Rhizomelic Chondrodysplasia Punctata, Type 1
Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Recessive
Saethre-Chotzen Syndrome
Sex Determination For X-Linked Conditions For Disorders That
Manifest Significantly Different In One Sex Compared To The Other
Simpson-Golabi-Behmel Syndrome, Type 1
Smith-Lemli-Opitz Syndrome
Spondylocostal Dysostosis 5 Gene Panel Test
Synpolydactyly 1
Telangiectasia, Hereditary Hemorrhagic, Of Rendu, Osler, And
Weber
Telangiectasia, Hereditary Hemorrhagic, Type 2
Thrombocytopenia Absent-Radius Syndrome
Treacher Collins Syndrome
Tuberous Sclerosis
Uniparental Disomy, Chromosome 16
Uniparental Disomy, Paternal, Chromosome 14
Uterine Cancer, Familial, 9 Gene Panel
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Visceral Heterotaxy
Von Hippel-Lindau Syndrome
Waardenburg Syndrome Types 1 And 3
Warburg Micro Syndrome 1
Weaver Syndrome
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental
Retardation Syndrome
Witkop Syndrome
14
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15
3.1 Audiology
3.1 Audiology
Audiology tests offered and laboratory providers
Joint Clinics
Clinical Genetics Centre
Lead Specialty
No. clinics per year
Genetic deafness
GOSH
CLINICAL GENETICS
44
Laboratories offering audiology tests
Adult
Adult Audiology
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Joint Clinical Genetics/Audiology Clinics
Deafness, Autosomal Dominant 3A
Adult Audiology
Deafness, Autosomal Recessive 1A
Deafness, X-linked 2
London GOSH
Syndromic and Non Syndromic Hearing Loss
95 Gene Panel
Liverpool
Waardenburg Syndrome Types 1 And 3
Leeds
Paediatric
Birmingham RGC
0
1
2
3
4
5
6
Paediatric Audiology
Number of tests
Bi
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ed am D
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Liv
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fo O
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sC
ar
di
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Wales Cardiff
Deafness, Aminoglycoside-Induced
Paediatric Audiology
Deafness, X-linked 2
Pendred Syndrome
Syndromic and Non Syndromic Hearing Loss
95 Gene Panel
London GOSH
Liverpool
Leeds
Wales Cardiff
Oxford RGC
London ION
Birmingham RGC
Birmingham IMD
0
2
4
6
8
Number of tests
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17
3.2 Cancer
3.2 Cancer
Joint Clinical Genetics/Adult Cancer Clinics
Joint Clinics
Joint Clinics
No. clinics per
year
Lead Specialty
Breast Risk reducing mastectomy
SE Wales
BREAST SURGERY
4
Breast Risk reducing mastectomy
SW Wales
BREAST SURGERY
4
(Breast) Risk reducing mastectomy
Manchester
CLINICAL GENETICS
6
Breast Risk Reducing
Merseyside and Cheshire
CLINICAL GENETICS
4
Breast service high risk management
North of Scotland
(Aberdeen)
GENERAL SURGERY (Breast)
10
BRCA1/2 Carrier Multidisciplinary
SE Thames (Guys)
CLINICAL GENETICS
10
BRCA carrier
SW Thames (St Georges)
CLINICAL GENETICS
4
Breast
Tayside (Dundee)
CLINICAL GENETICS /
44
Breast High risk genetic
West of Scotland
10
Colorectal cancer genetics
NW Thames (Northwick
Park)
GASTROENTEROLOGY
10
Wessex
CLINICAL GENETICS
15
Cowden
Leicester
CLINICAL GENETICS
2
Endocrine Cancer Genetics
West of Scotland
ENDOCRINOLOGY
10
Familial Gastric Cancer
Cambridge
GASTROENTEROLOGY
4
Genetics Endocrine Cancer
CLINICAL GENETICS
4
Gorlin
Manchester
GENOMIC MEDICINE
4
Gynae Genetics
Sheffield
ENDOCRINOLOGY
10
Gynaeoncology
Leicester
CLINICAL GENETICS
3
MEN1 UHB
Birmingham
ENDOCRINOLOGY
10
Multiple Endocrine Neoplasia s
Manchester
ENDOCRINOLOGY
Multiple Endocrine Neoplasia
Sheffield
No. clinics per
year
RASMAPK
Manchester
CLINICAL GENETICS
1
Skin genetics (Cancer)
Oxford
CLINICAL GENETICS
6
Thyroid Oncology and MEN2 UHB
Birmingham
GENERAL SURGERY (Head
& Neck)
4
VHL/renal tumour predisposition/
adult renal genetic disorders
NE Thames (GOSH/UCL)
NEPHROLOGY
6
VHL/renal genetics
Park)
NEPHROLOGY
4
Von Hippel Lindau Disease
Birmingham
CLINICAL GENETICS
10
Bristol
Cambridge
CLINICAL GENETICS
10
Leeds
CLINICAL GENETICS
10
Leicester
CLINICAL GENETICS
3
Oxford
CLINICAL GENETICS
10
SE Thames (Guys)
CLINICAL GENETICS
4
Wessex
CLINICAL GENETICS
3
1
Joint Clinical Genetics/Paediatric Cancer Clinics
Joint Clinics
Lead Specialty
No. clinics per
year
CLINICAL GENETICS
6
Juvenille Polyposis
PAEDIATRIC
GASTROENTEROLOGY
4
6
Paediatric Cancer
SW Thames (St George’s)
CLINICAL GENETICS
6
ENDOCRINOLOGY
4
Paediatric Endocrine Cancer Genetics
West of Scotland
2
GYNAECOLOGICAL
ONCOLOGY
10
PAEDIATRIC
ENDOCRINOLOGY
Paediatric Oncology
Wessex
Retinoblastoma
MEDICAL
OPHTHALMOLOGY/
ONCOLOGY
44
Retinoblastoma
Birmingham
PAEDIATRIC
OPHTHALMOLOGY
44
Retinoblastoma Transition
Birmingham
PAEDIATRIC ONCOLOGY
12
ENDOCRINOLOGY
6
Neuroendocrine Genetics
Park)
ENDOCRINOLOGY
12
Phaeochromocytoma/ Paraganglioma Birmingham
HEAD & NECK SURGERY
6
Retinoblastoma - BCH
OPHTHALMOLOGY
44
18
Lead Specialty
Childhood cancer
Birmingham
www.ukgtn.nhs.uk
10
19
3.2 Cancer
3.2 Cancer
Laboratories offering cancer disorder tests
Cancer tests offered and laboratory providers
Adult Cancer
Adult
Birmingham
Leeds
Oxford RGC
Exeter
Sheffield
London KGC
London GSTT
Bristol
Dundee
Salisbury
London St Georges
Newcastle RGC
Liverpool
Nottingham
Manchester
Aberdeen
Wales Cardiff
Cambridge
Belfast
Glasgow
Adult Cancer
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Br ngh
ist am
o
Ca l
m
b
Du r i d
nd ge
Ex ee
et
e
Gl r
as
g
Le ow
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n K
nd G
on C
Lo
nd GS
o T
M nS T
an t
c G
Ne hes eor
wc ter ge
s
No ast
tti le R
ng G
Ox h C
fo am
r
Sa d R
lis G C
b
Sh u r y
effi
W e ld
ale
sC
ar
di
ff
Local arrangements may apply for the provision of tests in italics
Adenomatous Polyposis 1, familial
Adenomatous Polyposis 2, familial
Bannayan-Riley-Ruvalcaba Syndrome
Basal Cell Nevus Syndrome
Bone Marrow Failure Syndromes, inherited, 44 Gene
Panel
Bowel Cancer including HNPCC phenotype or Polyposis,
familial, 14 Gene Panel
Breast/Ovarian Cancer, familial
Breast/Ovarian Cancer, familial, 13 Gene Panel (Option A)
Breast/Ovarian Cancer, familial, 13 Gene Panel (Option B)
Colorectal Cancer, familial, 10 Gene Panel
Alveolar Capillary Dysplasia With Misalignment Of
Pulmonary Veins
Cowden Disease
Fanconi Anaemia (Cytogenetic Laboratory Test)
0
2
4
6
8
10
12
14
Number of tests
Gastric Cancer, Hereditary Diffuse
GATA2 Deficiency
Li-Fraumeni Syndrome 1
Bowel Cancer including HNPCC phenotype or Polyposis,
Familial, 14 Gene Panel
Muir-Torre Syndrome
Paediatric Cancer
Multiple Endocrine Neoplasia, Type I
London GSTT
Multiple Endocrine Neoplasia, Type IIA
London KGC
Multiple Endocrine Neoplasia, Type IIB
Sheffield
Salisbury
Oxford RGC
London St Georges
London GOSH
Liverpool
Leeds
Phaeochromocytoma and Paragangliomas, Familial, 11
Gene Panel (Option A)
Phaeochromocytoma and Paragangliomas, Familial, 11
Gene Panel (Option B)
Phaeochromocytomas and Paragangliomas, Familial, 9
Gene Panel
Pituitary Cancer, Parathyroid and Hypercalcemia 7 Gene
Panel
Renal Cell Carcinoma, Papillary, 1
Thyroid Carcinoma, Familial Medullary
Bristol
Von Hippel-Lindau Syndrome
Birmingham RGC
0
1
2
3
4
5
6
Number of tests
20
www.ukgtn.nhs.uk
21
3.3 Cardiology
3.2 Cancer
Cancer related tests offered and laboratory providers
Joint Clinics
Bi
rm
i
Br ngh
ist am
o
RG
Le l
ed
C
s
Liv
er
p
Lo oo
nd l
o
Lo n G
nd O
o S
Lo n K H
nd G
o C
Lo n G
nd S
o T
Ox n S T
fo t G
r
Sa d R eor
lis G C ge
b
s
Sh u r y
effi
el
d
Paediatric
Joint Clinical Genetics/Cardiology Clinics
Lead Specialty
No. clinics per
year
Adult cardiac genetics (Grampian)
North of Scotland
(Aberdeen)
Aortopathy (Brompton)
CARDIOLOGY
12
CARDIOLOGY
44
Aortopathy/Marfan (Harefield/
Brompton)
Barth
Bristol
Cardiac arrhythmia
Manchester
CARDIOLOGY
44
Juvenile Polyposis Syndrome
Nijmegen Breakage Syndrome (Cytogenetic
Laboratory Test)
Cardiac
CLINICAL GENETICS
12
Cardiac, Genetic
Leeds
CLINICAL GENETICS
44
Cardiac Conditions, Inherited
Birmingham
CARDIOLOGY
33
Rhabdoid Tumor Predisposition Syndrome 1
Cardiac conditions, inherited
Cambridge
CLINICAL GENETICS
22
Cardiac Conditions, Inherited
Nottingham
CLINICAL GENETICS/
CARDIOLOGY
12
Cardiac Conditions, inherited
SE Thames (Guys)
CARDIOLOGY
44
Cardiac genetics
Exeter (PGCS)
CLINICAL GENETICS
2
Cardiac genetics
Leicester
CLINICAL GENETICS
12
Cardiac genetics
Oxford
Cardiac genetics
West of Scotland
CARDIOLOGY
44
Cardiac genetics (MDT)
Sheffield
CARDIOLOGY
12
Cardiac genetics (Highland)
North of Scotland
(Aberdeen)
Cardiac MDT
Tayside (Dundee)
CLINICAL GENETICS/
CARDIOLOGY
12
Cardiac
Park)
CARDIOLOGY
12
Cardiogenetics
Wessex
CARDIOLOGY
20
Fabry
Belfast
CARDIOLOGY
6
Familial Arrhythmia Network
North of Scotland
(Aberdeen)
Paediatric Cancer
Basal Cell Nevus Syndrome
Bloom Syndrome (Cytogenetic Laboratory Test)
Wilms Tumor 1
Wilms Tumor 2
22
www.ukgtn.nhs.uk
6
2
44
2
4
23
3.3 Cardiology
3.3 Cardiology
Joint Clinical Genetics/Cardiology Clinics
Joint Clinics
Lead Specialty
No. clinics per
year
Inherited Cardiac Disease (Brompton)
CARDIOLOGY
22
Marfan (Paedatric)
Cardiff
PAEDIATRIC CARDIOLOGY
6
Marfan (Paediatric)
Edinburgh
CLINICAL GENETICS/
4
Marfan Syndrome
Oxford
24
Vascular Ehlers Danlos syndrome/ Cambridge
Loeys Dietz syndrome
CARDIOLOGY
3
Paediatric Cardiology
Manchester
Birmingham RGC
Oxford RGC
London GOSH
London St Georges
Bristol
Aberdeen
Exeter
Birmingham IMD
Salisbury
Leeds
Sheffield
London GSTT
Cambridge
Laboratories offering cardiology tests
0
2
4
6
8
10
Number of tests
Adult Cardiology
Manchester
Oxford RGC
London GOSH
Aberdeen
Birmingham RGC
Sheffield
Salisbury
Leeds
London GSTT
Birmingham IMD
London St Georges
Bristol
Exeter
Newcastle Mito
London ION
Cambridge
Wales Cardiff
Liverpool
Dundee
Belfast
0
2
4
6
8
10
12
Number of tests
24
www.ukgtn.nhs.uk
25
3.3 Cardiology
Paediatric
Cardiology related tests offered and laboratory providers
Adult Cardiology
Alagille Syndrome 1
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Bi ngh
rm am
i
Br ngh I M
ist am D
ol
RG
Ca
C
m
br
Du i d
nd ge
Ex ee
et
e
Le r
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n I
nd ON
o
Lo n G
nd O
o S
Lo n S H
nd E
o G
M n S STT
an t
ch Ge
Ne es or
wc ter ge
s
Ox ast
f o le M
rd
Sa R ito
li s G C
b
Sh u r y
effi
W e ld
ale
sC
ar
di
ff
Adult
Paediatric Cardiology
Ab
er
d
Bi een
rm
i
Bi ngh
rm am
i
Br ngh I MD
ist am
o
RG
Ca l
C
m
b
Ex ridg
et
e e
Le r
ed
s
Lo
nd
o
Lo n G
nd O
o S
Lo n G H
n d ST
o
T
M nS
an t G
c
e
Ox hes org
fo ter es
r
Sa d RG
lis
b C
Sh u r y
effi
el
d
3.3 Cardiology
Alagille Syndrome 2
Alstrom Syndrome
Aortopathy 15 Gene Panel
Aicardi-Goutieres Syndrome
Arrhythmogenic Right Ventricular Dysplasia
Barth Syndrome
Arrhythmia/Cardiac Arrest (BCL) 21 Gene Panel
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) 6
Gene Panel
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) 8
Gene Panel
Brugada Syndrome 1
Brugada Syndrome 6 Gene Panel
Cardiomyopathies (CM) 36 Gene Panel
Catecholaminergic Polymorphic Ventricular Tachycardia
(CPVT) 5 Gene Panel
Dilated Cardiomyopathies 28 Gene Panel
Brugada Syndrome 1
Brugada Syndrome 6 Gene Panel
Cardiomyopathies (CM) 36 Gene Panel
Dilated Cardiomyopathy (DCM) 22 Gene Panel
Catecholaminergic Polymorphic Ventricular Tachycardia
(CPVT) 5 Gene Panel
Connective Tissue Disorders – Familial Thoracic Aortic
Aneurysms 10 Gene Panel
Cutis Laxa 7 Gene Panel
Dilated Cardiomyopathy, Familial
Glycogen Storage Disease (GSD) 32 Gene Panel
Glycogen Storage Disease 18 Gene Panel
Glycogen Storage Disease Ia
Glycogen Storage Disease Ib and Ic
Glycogen Storage Disease II
Glycogen Storage Disease V
Hypertrophic Cardiomyopathy (HCM) 22 Gene Panel
Hypertrophic Cardiomyopathy, Familial
Hypertrophic cardiomyopathy, Familial, 16 gene panel
Hypercholesterolaemia, Familial, 4 Gene Panel
Leopard and Noonan Syndrome
Hypercholesterolemia, Familial
Long QT Syndrome (LQT) 12 Gene Panel
Hypertrophic Cardiomyopathy (HCM) 22 Gene Panel
Long QT Syndrome, Familial
Hypertrophic Cardiomyopathy, Familial
Hypertrophic cardiomyopathy, Familial, 16 gene panel
Molecular Autopsy (MolAut) 57 Gene Panel
Jervell And Lange-Nielsen Syndrome 1 and 2
Noonan Spectrum Disorders 12 Gene Panel
Loeys-Dietz Syndrome
Paediatric Cardiomyopathy 71 Gene Panel
Supravalvular Aortic Stenosis
Thoracic Aortic Aneurysm (AA) 9 Gene Panel
Marfan Syndrome
Thoracic Aortic Aneurysm and Dissection, Familial
Mitochondrial Genome 37 Gene Panel
Supravalvular Aortic Stenosis
Thoracic Aortic Aneurysm (AA) 9 Gene Panel
Thoracic Aortic Aneurysm and Dissection, Familial
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With
Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
26
www.ukgtn.nhs.uk
27
Joint Clinics
Chemical pathology tests offered and laboratory providers
Lead Specialty
No. clinics per
year
Lipid / genetics (Grampian)
North of Scotland
(Aberdeen)
CHEMICAL PATHOLOGY
(Lipidology)
4
Lipid Forum (Scottish)
North of Scotland
(Aberdeen)
CHEMICAL PATHOLOGY
(Lipidology) / CLINICAL
GENETICS
tbc
Chemical Pathology
Bi
rm
in
Br gh
ist am
o
IM
Ca l
D
m
br
i
Du d g
nd e
e
Ex e
et
er
Liv
er
p
Lo ool
nd
o
Lo n G
nd OS
o
H
M nG
an ST
c
T
Ne hes
t
e
wc
r
Ox astl
e
fo
RG
r
Sh d RG C
effi C
W e ld
ale
sP
or
ph
yr
ia
Joint Clinical Genetics/Chemical Pathology Clinics
Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency Of
Diabetes Insipidus, Nephrogenic, X-Linked
Laboratories offering tests for chemical pathology
Donohue Syndrome
Dysalbuminemic Hyperthyroxinemia, Familial
Hyperparathyroidism, Familial, 8 Gene Panel
Chemical Pathology
Hyperthyroidism, Familial Gestational
Immunodeficiency With Hyper-Igm, Type 1
Cambridge
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Wales Cardiff SAS Porphyria
Thyroid Hormone Resistance, Selective Pituitary
London GOSH
Oxford RGC
Exeter
Sheffield
Manchester
Birmingham IMD
Newcastle RGC
London GSTT
Liverpool
Dundee
Bristol
0
1
2
3
4
5
6
Number of tests
28
www.ukgtn.nhs.uk
29
3.5 Cleft Clinics
Joint Clinical Genetics/Cleft Clinics
Joint Clinics
Joint Clinical Genetics/Clinical Haematology Clinics
Lead Specialty
No. clinics per
year
Joint Clinics
Lead Specialty
No. clinics per
year
Cleft
CLINICAL GENETICS
36
Haemophilia and bleeding disorders
West of Scotland
CLINICAL HAEMATOLOGY
12
Cleft
Oxford
CLINICAL GENETICS
12
Thrombophilia
SW Thames (St George’s)
CLINICAL HAEMATOLOGY
12
Cleft
West of Scotland
PAEDIATRIC PLASTIC
SURGERY
36
Cleft lip and palate
Sheffield
PLASTIC SURGERY
2
Cleft lip and palate
Birmingham
PAEDIATRIC PLASTIC
SURGERY
44
Laboratories offering tests for clinical haematology
Adult Clinical Haematology
London King's Haem
Oxford Haem
London UCLH Haem
Sheffield
London GSTT
Newcastle RGC
London KGC
Exeter
Bristol
Leeds
Birmingham RGC
Aberdeen
Salisbury
Liverpool
Glasgow
Dundee
0
2
4
6
8
10
12
Number of tests
Paediatric Clinical Haematology
Oxford Haem
London UCLH Haem
London King's Haem
London GOSH
Exeter
0
2
4
6
8
Number of tests
30
www.ukgtn.nhs.uk
31
Paediatric
Clinical haematology tests offered and laboratory providers
Adult Clinical Haematology
Alpha-Thalassemia
Ab
er
d
Bi ee
rm n
i
Br ngh
ist am
o
RG
Du l
C
nd
Ex ee
et
e
Gl r
as
g
Le ow
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n K
n d in
o g
Lo n K 's H
nd G a e
o C
m
Lo n G
nd S
T
o
Ne n U T
wc CL
Ox ast H H
f o le R a e
m
r
Sa d H GC
lis ae
b
m
Sh u r y
effi
el
d
Adult
Paediatric Clinical Haematology
Ex
et
e
Lo r
nd
o
Lo n K
n d in
o g
Lo n G 's H
nd O a e
o S
Ox n U H m
fo C L
rd H
H a Ha
em em
Alpha-Thalassemia
Anaemia, Congenital 33 Gene Panel
Beta Thalassemia, Dominant Inclusion Body Type
Beta-Thalassemia
Delta Thalassemia
Fetal Hemoglobin Quantitative Trait Locus 1
Hemoglobin--Variants For Which The Chain
Carrying The Mutation Is Unknown Or Uncertain
Anaemia, Congenital , 33 Gene Panel
Beta-Thalassemia
Bone Marrow Failure Syndromes, Inherited, 44
Gene Panel
Chromosome Breakage Disorders 61 Gene Panel
Hemophagocytic Lymphohistiocytosis, Familial, 2
Sickle Cell Anemia
Thrombophilia Due To Activated Protein C
Resistance
Delta Thalassemia
Factor V Deficiency
Fetal Hemoglobin Quantitative Trait Locus 1
GATA2 Deficiency
Gilbert Syndrome
Glucose-6-Phosphate Dehydrogenase Deficiency
Hemoglobin--Variants For Which The Chain
Carrying The Mutation Is Unknown Or Uncertain
Hemolytic Uremic Syndrome, Atypical,
Susceptibility To, 1
Hemophilia A
Hemophilia B
Iron Regulatory 16 Gene Panel
Platelet Disorder, Familial, With Associated
Myeloid Malignancy
Sickle Cell Anemia
Thrombophilia Due To Activated Protein C
Resistance
Thrombophilia Due To Thrombin Defect
32
www.ukgtn.nhs.uk
33
Joint Clinics
Clinical immunology tests offered and laboratory providers
22q11
All Wales
Lead Specialty
No. clinics per
year
IMMUNOLOGY
4
Clinical Immunology
Laboratories offering tests for clinical immunology
Ca
m
b
Lo rid
nd ge
o
Lo n G
nd O
o n SH
Lo
nd GS
o T
Ne n S T
wc t G
Ox ast eor
fo le R ge
s
r
W d R GC
ale G C
sP
or
ph
yr
ia
Joint Clinical Genetics/Immunology Clinics
Agammaglobulinemia, X-Linked
Angioedema, Hereditary, Type I
Angioedema, Hereditary, Type III
Clinical Immunology
Atypical Mycobacteriosis, Familial
Autoimmune Lymphoproliferative Syndrome
London GOSH
Autoimmune Polyendocrine Syndrome, Type I
Wales Porphyria
Cartilage-Hair Hypoplasia
Cambridge
Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency
London St Georges
London GSTT
Oxford RGC
≤3 labs provide this test
Hyper-IgD Syndrome and Mevalonic Aciduria
>3 labs provide this test
Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant
Immunodeficiency With Hyper-IgM, Type 1
Newcastle RGC
IRAK4 Deficiency
0
2
4
6
8
10
12
Lymphedema, Hereditary, IA
14
Lymphedema-Distichiasis Syndrome
Number of tests
Lymphoproliferative Syndrome, EBV-Associated, Autosomal, 1
Lymphoproliferative Syndrome, X-Linked, 1
Nijmegen Breakage Syndrome (Cytogenetic Laboratory Test)
Primary Immune Deficiencies 72 Gene Panel
Properdin Deficiency, X-Linked
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B
Cell-Negative, Nk Cell-Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B
Cell-Positive, Nk Cell-Negative
Severe Combined Immunodeficiency, X-Linked
Wiskott-Aldrich Syndrome
34
www.ukgtn.nhs.uk
35
Joint Clinical Genetics/Craniofacial Clinics
Craniosynostosis tests offered and laboratory providers
Lead Specialty
No. clinics per
year
Birmingham
PAEDIATRIC PLASTIC
SURGERY
44
Craniofacial
Cardiff
CRANIOFACIAL
6
Craniofacial
Leeds
NEUROSURGERY
12
Craniofacial
CRANIOFACIAL
44
Craniofacial
NEUROSURGERY
44
Craniofacial
Oxford
CLINICAL GENETICS
44
Craniofacial
West of Scotland
NEUROSURGERY
36
Neurofibromatosis (NF2)
Birmingham
ENT
3
Cambridge
ENT
10
Exeter (PGCS)
CLINICAL GENETICS/
NEUROLOGY
12
Leeds
NEUROSURGERY
4
Leicester
CLINICAL GENETICS
1
Manchester
CLINICAL GENETICS
44
Northern
CLINICAL GENETICS
3
Nottingham
ENT
3
Oxford
CLINICAL GENETICS
44
SE Thames (Guys)
NEUROLOGY
10
Sheffield
NEUROSURGERY
4
Apert Syndrome
Beare-Stevenson Cutis Gyrata Syndrome
Carpenter Syndrome
Cleidocranial Dysplasia
Craniofrontonasal Syndrome
Craniosynostosis 3
Craniosynostosis 4
Craniosynostosis And Dental Anomalies
Crouzon Syndrome
Jackson-Weiss Syndrome
Muenke Syndrome
Parietal Foramina
Pfeiffer Syndrome
Saethre-Chotzen Syndrome
ENT related tests offered and laboratory providers
Ed
i
ENT related tests
nb
M urg
an h
ch
es
te
r
Craniofacial
Craniosynostosis
Lo
n
Joint Clinics
do
Ox n G
fo OS
rd
H
RG
C
Clinics funded as part of a Highly Specialised Service are highlighted in yellow
Neurofibromatosis, Type II
Telangiectasia, Hereditary Hemorrhagic, Of Rendu,
Osler, And Weber
Neurosurgery related tests offered and laboratory providers
Cerebral Cavernous Malformations
36
www.ukgtn.nhs.uk
Dundee
37
3.9 Dermatology
3.9 Dermatology
Joint Clinical Genetics/Dermatology Clinics
Laboratories offering tests for dermatology
Joint Clinics
Lead Specialty
Adult Dermatology
No. clinics per
year
Dundee
Connective Tissue Disorder Clinic
SE Thames (Guys)
CLINICAL GENETICS
44
Wales Porphyria
Connective Tissue/PXE
Park)
CLINICAL GENETICS
4
Wales Cardiff
Dermatology and Vascular Disease
SE Thames (Guys)
DERMATOLOGY
6
Dermatology Genodermatoses
SE Thames (Guys)
CLINICAL GENETICS
12
Dermatology/Genetics
Northern
CLINICAL GENETICS
4
Ehlers-Danlos clinic
Birmingham
PAEDIATRIC
RHEUMATOLOGY
2
Epidermolysis bullosa
Birmingham
PAEDIATRIC
DERMATOLOGY
44
Genetics Skin
SE Thames (Guys)
CLINICAL GENETICS
12
Genetics/Dermatology
Cambridge
DERMATOLOGY
4
CLINICAL GENETICS
12
Tayside (Dundee)
CLINICAL GENETICS /
DERMATOLOGY
6
Gorlin
Manchester
GENOMIC MEDICINE
4
Lymphoedema
DERMATOLOGY
44
Skin Genetics
Leicester
DERMATOLOGY
4
Dundee
Skin Genetics (General)
Oxford
CLINICAL GENETICS
12
Wales Cardiff
Vascular Anomalies
Tayside (Dundee)
CLINICAL GENETICS /
DERMATOLOGY
12
Cambridge
DERMATOLOGY
12
Xeroderma pigmentosa (XP)
SE Thames (Guys)
Sheffield
London St Georges
Edinburgh
≤3 labs provide this test
Salisbury
>3 labs provide this test
Newcastle RGC
London GSTS
Glasgow
0
1
2
3
4
5
6
7
Number of tests
Paediatric Dermatology
London GOSH
Sheffield
Wales Porphyria
Salisbury
London GSTT
Leeds
Glasgow
Bristol
0
1
2
3
4
5
6
7
Number of tests
38
www.ukgtn.nhs.uk
39
3.9 Dermatology
3.9 Dermatology
Adult Dermatology
Du
Adult
nd
Ed ee
in
b
Gl urg
as h
g
Lo ow
nd
o
Lo n G
nd S
o T
Ne n S T
wc t G
Sa ast eor
lis le ge
R
b
s
Sh ury GC
effi
W e ld
ale
W s Ca
ale rd
s P iff
or
ph
yr
ia
Clouston Syndrome
Cylindromatosis, Trichoepitheliomas and
Spiradenoma, Familial
Ectodermal Dysplasia, Hypohidrotic, Autosomal
Dominant and Recessive
EEC Syndrome 3 and Related Syndromes
Paediatric Dermatology
Br
ist
o
Ca l
m
b
Du r i d
nd ge
Gl ee
as
g
Le ow
ed
s
Lo
nd
o
Lo n G
nd O
o S
Sa n G H
li s
bu STT
Sh r y
effi
W e ld
ale
W sC
ale ard
s P iff
or
ph
yr
ia
Paediatric
Dermatology tests offered and laboratory providers
Ectodermal Dysplasia, Hypohidrotic, With Immune
Deficiency
Ehlers Danlos Syndrome (EDS) 12 Gene Panel
Ehlers-Danlos Syndrome Types I and II (Classic)
Ehlers-Danlos Syndrome, Type IV, Autosomal
Dominant
Ehlers-Danlos Syndrome, Type VI
Epidermolysis Bullosa Simplex, Generalized
Epidermolytic Hyperkeratosis
Ehlers-Danlos Syndrome, Type IV, Autosomal
Dominant
Epidermolysis Bullosa Simplex, Generalized
Ichthyosis, Bullous Type
Ichthyosis, Congenital, Autosomal Recessive
Hennekam Lymphangiectasia-Lymphedema Syndrome
Ichthyosis, X-Linked
Ichthyosis, Bullous Type
Netherton Syndrome
Laboratory Test)
Ichthyosis, Congenital, Autosomal Recessive
Lymphedema, Hereditary, IA
Lymphedema-Distichiasis Syndrome
Odontoonychodermal Dysplasia And Related
Phenotypes
Palmoplantar Keratoderma, Epidermolytic
Peeling Skin Syndrome, Acral Type
Porphyria Variegata
Osler, And Weber
40
www.ukgtn.nhs.uk
41
3.10 Endocrinology
3.10 Endocrinology
Joint Clinical Genetics/Adult Endocrinology Clinics
Joint Clinics
Joint Clinics
Lead Specialty
No. clinics per
year
Bardet Biedl Syndrome
CLINICAL GENETICS
10
Bardet Biedl Syndrome
SE Thames (Guys)
CLINICAL GENETICS
6-12
Congenital adrenal hyperplasia
Oxford
ENDOCRINOLOGY
10
Disorders of Sex Development,
Scottish (SDSD)
North of Scotland
(Aberdeen)
GENERAL SURGERY
2
Disorders of Sexual Development
(DSD)
Cambridge
ENDOCRINOLOGY
10
Endocrine (Adult)
Cambridge
CLINICAL GENETICS
6
Endocrine (from April 2013)
Leicester
ENDOCRINOLOGY
3
Endocrine Cancer Genetics
West of Scotland
ENDOCRINOLOGY
10
Endocrine and Genetics UHB (General) Birmingham
ENDOCRINOLOGY
10
Endocrine Genetics
SE Thames (Guys)
CLINICAL GENETICS
10
Endocrinology
Tayside (Dundee)
CLINICAL GENETICS/
ENDOCRINOLOGY
4
Endocrinology Genetics
CLINICAL GENETICS
10
Genetic Endocrine
Edinburgh
CLINICAL GENETICS/
ENDOCRINOLOGY
10
Gynae Genetics
Sheffield
ENDOCRINOLOGY
10
Joint Bone, and Calcium UHB
Birmingham
ENDOCRINOLOGY
10
Joint Endocrine transition UHB
Birmingham
ENDOCRINOLOGY
4
MEN1 UHB
Birmingham
ENDOCRINOLOGY
10
MODY
West of Scotland
ENDOCRINOLOGY
3
ENDOCRINOLOGY
4
Oxford
CLINICAL GENETICS
2
Sheffield
GYNAECOLOGICAL
ONCOLOGY
10
42
Lead Specialty
No. clinics per
year
Multiple Endocrine Neoplasias
Manchester
ENDOCRINOLOGY
6
ENDOCRINOLOGY
6
Neuroendocrine Genetics
Park)
CLINICAL GENETICS
10
Reproductive Medicine BWH
Birmingham
ENDOCRINOLOGY
10
Reproductive Medicine Transition
Clinic BWH
Birmingham
ENDOCRINOLOGY
3
www.ukgtn.nhs.uk
43
3.10 Endocrinology
3.10 Endocrinology
Joint Clinical Genetics/Paediatric Endocrinology Clinics
Joint Clinics
Joint Clinics
Lead Specialty
No. clinics per
year
Lead Specialty
No. clinics per
year
Paediatric Bone
Birmingham
PAEDIATRIC
ENDOCRINOLOGY
2
Paediatric Endocrine
Cambridge
PAEDIATRIC
ENDOCRINOLOGY
6
Paediatric Endocrine and Growth
CLINICAL GENETICS
10
Paediatric Endocrine and Growth
Northern
PAEDIATRIC
ENDOCRINOLOGY /
CLINICAL GENETICS
3
Alstrom / Bardet Biedl / Wolfram
Birmingham
PAEDIATRIC
ENDOCRINOLOGY
4
Bone genetics
Wessex
PAEDIATRIC
ENDOCRINOLOGY
3
Disorders of Sexual development
UROLOGY/
ENDOCRINOLOGY
10
Paediatric Endocrine Tumours
Birmingham
PAEDIATRIC
ENDOCRINOLOGY
4
DSD
Birmingham
PAEDIATRIC
ENDOCRINOLOGY
12
Short Stature syndromes
Birmingham
PAEDIATRIC
ENDOCRINOLOGY
4
Disorders of Sexual Differentiation
PAEDIATRIC
ENDOCRINOLOGY
4
Skeletal Dysplasia
West of Scotland
PAEDIATRIC
ENDOCRINOLOGY
22
Disorders of Sex Development,
Scottish (SDSD)
North of Scotland
(Aberdeen)
GENERAL SURGERY
2
Disorders of Sexual Development
Oxford
PAEDIATRIC
ENDOCRINOLOGY
10
Disorders of Sexual development
Wessex
PAEDIATRIC
ENDOCRINOLOGY
10
Disorder of Sexual Development
West of Scotland
PAEDIATRIC
ENDOCRINOLOGY
10
Endocrine and DSD genetics
(Paediatric)
Cardiff
CLINICAL GENETICS
4-6
Endocrine Genetics (Paediatric)
Park)
CLINICAL GENETICS
2
Endocrine Genetics (Paediatric)
Wessex
PAEDIATRIC
ENDOCRINOLOGY
7
Endocrine, Skeletal and Genetic
Stoke (UHNS)
PAEDIATRIC
ENDOCRINOLOGY
4
Endocrine and genetic
Birmingham
PAEDIATRIC
ENDOCRINOLOGY
4
Growth
Northern
CLINICAL GENETICS
10
Growth
Wessex
PAEDIATRIC
ENDOCRINOLOGY
3
Lipid/familial hypercholesterolaemia
Wessex
PAEDIATRIC
ENDOCRINOLOGY
4-6
Metabolic Bone
Edinburgh
CLINICAL GENETICS/
PAEDIATRICS
4
Metabolic Bone
Park)
PAEDIATRICS
3
Metabolic-Genetics Family
SE Thames (Guys)
PAEDIATRIC METABOLIC
DISEASE
44
Osteogenesis imperfecta and metabolic bone disorders
Birmingham
PAEDIATRIC
ENDOCRINOLOGY
2
44
www.ukgtn.nhs.uk
45
3.10 Endocrinology
3.10 Endocrinology
Laboratories offering tests for endocrinology
Endocrine tests offered and laboratory providers
Adult Endocrinology
Adult disorders A-H
Exeter
Cambridge
Adult Endocrinology
Oxford RGC
17-@beta Hydroxysteroid Dehydrogenase III Deficiency
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase
Deficiency
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
London UCLH Biochem
Salisbury
Birmingham RGC
Leeds
Sheffield
Wales Porphyria
Newcastle RGC
Dundee
Manchester
Bristol
Oxford Haem
Aberdeen
London GOSH
London ION
Belfast
London St Georges
London GSTT
0
5
10
15
20
25
30
35
40
Number of tests
Paediatric Endocrinology
Exeter
London UCLH Biochem
Birmingham RGC
Salisbury
Cambridge
Sheffield
Manchester
London GOSH
Wales Porphyria
Oxford RGC
Newcastle RGC
London ION
Leeds
Glasgow
London GSTT
Bristol
Belfast
0
2
4
6
8
10
12
14
16
Number of tests
46
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Br ngh
ist am
ol
RG
Ca
C
m
b
Du r i d
g
nd e
Ex ee
et
e
Le r
ed
s
Lo
nd
o
Lo n I
nd ON
o
Lo n G
nd O
o S
Lo n G H
nd S
o T
Lo n S T
nd t G
o
M n U eor
an C ge
ch LH s
Ne es B
wc ter ioc
he
Ox ast
m
f o le R
rd
G
Ox H C
fo ae
m
r
Sa d R
l is G C
bu
Sh r y
effi
W e ld
ale
sP
or
ph
yr
ia
(NIPD)
Adrenal Hyperplasia, Congenital, Due To Steroid 11-BetaHydroxylase Deficiency
Adrenal Hypoplasia, Congenital
Aldosterone Synthase Deficiency
Amegakaryocytic Thrombocytopenia, Congenital
Androgen Insensitivity Syndrome
Autoimmune Polyendocrine Syndrome, Type I
Carney Complex, Type 1
Combined Pituitary Hormone Deficiency 5 Gene Panel
Congenital Generalised Lipodystrophy 5 Gene Panel
Congenital Hypothyroidism 8 gene panel
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Diabetes Mellitus, Permanent Neonatal
Diabetes-Deafness Syndrome, Maternally Transmitted
Dysalbuminemic Hyperthyroxinemia, Familial
Endocrine Neoplasia Syndromes 4 Gene Panel
Fabry Disease
Familial Glucocorticoid Deficiency 5 Gene Panel
Familial Isolated Hypoparathyroidism 4 Gene Panel
Familial Isolated Primary Hyperparathyroidism 8 Gene Panel
Familial Pheochromocytoma and Paraganglioma 10 Gene
Gitelman Syndrome
Glucocorticoid-Remediable Aldosteronism
Hyperparathyroidism 1
Hyperparathyroidism 2
Hyperparathyroidism, Familial, 8 Gene Panel
Hyperparathyroidism, Neonatal Severe Primary
Hyperphosphatemic & Normophosphatemic Familial Tumoral
Calcinosis 4 Gene Panel
Hyperthyroidism, Nonautoimmune
Hypocalciuric Hypercalcemia, Familial, Type I
Hypocalciuric Hypercalcemia, Familial, Type III
Hypoparathyroidism, Familial Isolated
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic Rickets, X-Linked Dominant
Hypothyroidism, Congenital, Nongoitrous, 1
www.ukgtn.nhs.uk
47
Paediatric Endocrinology
fa
Bi st
rm
i
Br ngh
ist am
ol
RG
Ca
C
m
br
Ex id
et ge
e
Gl r
as
g
Le ow
ed
s
Lo
nd
o
Lo n I
nd ON
o
Lo n G
nd O
o n SH
Lo
nd GS
o T
M nU T
an C
ch LH
Ne es B
wc ter ioc
he
Ox ast
m
f o le R
r
Sa d R GC
G
lis
b C
Sh u r y
effi
W e ld
ale
sP
or
ph
yr
ia
Adult Endocrinology
Liddle Syndrome
Lipodystrophy Types 1 and 2, Congenital generalised
Lipodystrophy, Familial Partial, Type 2
Male Infertility Due To Y Chromosome Deletions
Mandibuloacral Dysplasia With Type A Lipodystrophy
Monogenic Diabetes 14 Gene Panel
Multiple Endocrine Neoplasia, Type I
Multiple Endocrine Neoplasia, Type IIA
Multiple Endocrine Neoplasia, Type IIB
Neonatal Diabetes 22 Gene Panel
Osteogenesis Imperfecta 16 Gene Panel
Paediatric
Be
l
Adult disorders I-Z
3.10 Endocrinology
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Br ngh
ist am
ol
RG
Ca
C
m
b
Du r i d
nd ge
Ex ee
et
e
Le r
ed
s
Lo
nd
o
Lo n I
nd ON
o
Lo n G
nd O
o n SH
Lo
nd GS
o T
Lo n S T
nd t G
o
M n U eor
an C ge
ch LH s
Ne es B
wc ter ioc
he
Ox ast
m
f o le R
rd
G
Ox H C
fo ae
m
r
Sa d R
li s G C
bu
Sh r y
effi
W e ld
ale
sP
or
ph
yr
ia
3.10 Endocrinology
17-@beta Hydroxysteroid Dehydrogenase III Deficiency
3-Beta-Hydroxysteroid Dehydrogenase, Type II,
Deficiency Of
Adrenal Hyperplasia, Congenital, Due To 17-AlphaHydroxylase Deficiency
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase
Deficiency
Deficiency (NIPD)
Adrenal Hypoplasia, Congenital
Pallister-Hall Syndrome
Hereditary Paragangliomas and Phaeochromocytoma
Aldosterone Synthase Deficiency
Phaeochromocytoma and Paragangliomas, Familial, 11 Gene Panel
Alstrom syndrome
Phaeochromocytomas and Paragangliomas, Familial, 9 Gene Panel
Pituitary Adenoma, Growth Hormone-Secreting
Carney Complex, Type 1
Primary Pigmented Nodular Adrenocortical Disease
Diabetes Mellitus, Neonatal, With Congenital
Hypothyroidism
Primary Pigmented Nodular Adrenocortical Disease 3 Gene
Pseudohypoaldosteronism type II 4 Gene Panel
Short Syndrome
Steroid 5 alpha reductase
Fabry Disease
Thyroid Carcinoma, Familial Medullary
Thyroid Hormone Resistance, Selective Pituitary
Gender Assignment 13 gene panel
Wolfram Syndrome 1
Genital Anomalies and suspected Adrenal problems 12
gene panel
Hyperthyroidism, Familial Gestational
Hypophosphatemic Rickets With Hypercalciuria,
Hereditary
Hypophosphatemic Rickets, X-Linked Dominant
Immunodysregulation, Polyendocrinopathy, And
Enteropathy, X-Linked
Maturity-onset Diabetes of the Young
Pendred Syndrome
Pituitary Hormone Deficiency, Combined, 1
Sexual Development disorders 26 Gene Panel Test
Thyroid Dyshormonogenesis
Wolfram Syndrome 1
48
www.ukgtn.nhs.uk
49
3.11 Gastroenterology
3.11 Gastroenterology
Park)
GASTROENTEROLOGY
10
Familial Gastric Cancer
Cambridge
GASTROENTEROLOGY
4
Gastroenterology
Gastroenterology paediatric
Tayside (Dundee)
CLINICAL GENETICS/
GASTROENTEROLOGY
3
Fructose Intolerance, Hereditary
Juvenile polyposis
PAEDIATRIC
GASTROENTEROLOGY
4
in
gh
am
in
IM
g
D
h
Ca
m am
br
RG
Ed idge C
in
bu
Ex rgh
et
er
Liv
er
po
L o ol
nd
o
L o n GO
nd
o SH
M n GS
an
ch TT
Ox es t
fo e r
rd
W Ha
em
al
es
Po
rp
hy
ria
rm
Lead Specialty
rm
No. clinics per
year
Bi
Joint Clinics
Gastroenterology tests offered and laboratory providers
Bi
Joint Clinical Genetics/Gastroenterology Clinics
Hirschsprung Disease, Susceptibility To, 1
IL10-Related Inflammatory Bowel Disease
Very Early Onset Inflammatory Bowel Disease 40 Gene Panel
Laboratories offering tests for gastroenterology
Niemann-Pick Disease Type C1 and C2
Pancreatic And Cerebellar Agenesis
Pancreatitis, Hereditary
Gastroenterology
Wales Porphyria
Porphyria Variegata
London GOSH
Edinburgh
Exeter
Oxford Haem
Manchester
London GSTT
Liverpool
Cambridge
Telangiectasia, Hereditary Hemorrhagic, Of Rendu, Osler, And
Weber
Birmingham RGC
Birmingham IMD
0
1
2
3
4
5
6
Number of tests
50
www.ukgtn.nhs.uk
51
Laboratories offering tests for geriatric medicine & old age psychiatry
3.13 Gynaecology
Laboratories offering gynaecology tests
Geriatrics and Old Age Psychiatry
Gynaecology
Cambridge
London ION
London GSTT
Sheffield
Oxford RGC
Newcastle RGC
Manchester
Liverpool
Birmingham RGC
Salisbury
Nottingham
London St Georges
Leeds
Edinburgh
Bristol
Belfast
Cambridge
London UCLH Biochem
Dundee
Salisbury
Sheffield
Wales Cardiff
Oxford RGC
Nottingham
Newcastle RGC
Manchester
London St Georges
London GSTT
Liverpool
Leeds
0
1
2
3
4
5
Glasgow
6
Birmingham RGC
Number of tests
Belfast
Aberdeen
0
Geriatric medicine & old age psychiatry tests offered and laboratory
providers
5
Ab
er
Be dee
lfa n
Bi st
rm
i
Ca ngh
m am
b
Du rid RG
nd ge C
Gl ee
as
g
Le ow
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n G
nd S
o T
Lo n S T
nd t G
o
M n U eor
an C ge
L
c
s
Ne hes H B
wc ter ioc
he
No ast
m
tti le R
ng G
Ox h C
fo am
r
Sa d R
l is G C
b
Sh u r y
effi
W e ld
ale
sC
ar
di
ff
17-@beta Hydroxysteroid Dehydrogenase III
Deficiency
Dentatorubral-Pallidoluysian Atrophy
Frontotemporal Dementia
Frontotemporal Dementia And/Or Amyotrophic
Lateral Sclerosis
Frontotemporal Lobar Degeneration With TDP43
Inclusions, Grn-Related
Huntington Disease
Breast/Ovarian Cancer, Familial
Gonadal dysgenesis with gonadal failure 12
gene panel
Huntington Disease-Like 2
52
4
Gynaecology
Dementia 16 Gene Panel
3
Gynaelcology tests offered and laboratory providers
Alzheimer Disease 3
2
Number of tests
Be
l
Geriatrics/Old Age Psychiatry
fa
Bi st
rm
i
Br ngh
ist am
ol
RG
Ca
C
m
br
Ed id
in ge
b
Le urg
ed h
s
Liv
er
p
Lo oo
nd l
o
Lo n I
nd ON
o
Lo n G
nd S
o T
M nS T
an t
c G
Ne hes eor
wc ter ge
s
No ast
tti le R
n
Ox gh GC
fo am
rd
Sa R
li s G C
b
Sh u r y
effi
el
d
1
www.ukgtn.nhs.uk
53
3.14 Hepatology
3.14 Hepatology
Joint Clinical Genetics/Hepatology Clinics
Joint Clinics
Paediatric Hepatology
Familial Non-alcoholic fatty liver
disease
Lead Specialty
Leicester
HEPATOLOGY
No. clinics per
year
Sheffield
London GSTT
3
Birmingham RGC
Oxford RGC
Laboratories offering adult hepatology tests
London GOSH
Cambridge
Birmingham IMD
Adult Hepatology
Exeter
Sheffield
Dundee
Cambridge
Wales Porphyria
Liverpool
Oxford Haem
Salisbury
Newcastle Mito
Nottingham
Manchester
Newcastle RGC
London ION
London UCLH Haem
London KGC
London King's Haem
London King's Haem
Liverpool
Glasgow
0
Exeter
1
2
3
4
5
6
Number of tests
Dundee
Birmingham RGC
Aberdeen
0
1
2
3
4
Number of tests
54
www.ukgtn.nhs.uk
55
3.14 Hepatology
3.15 Histopathology & Coroner’s Service
Laboratories offering histopathology tests
Adult hepatology tests offered and laboratory providers
Adult Hepatology
Manchester
Ab
er
Bi dee
rm n
i
Ca ngh
m am
b
Du rid RG
nd ge C
Ex ee
et
e
Gl r
as
g
Liv ow
er
p
Lo oo
nd l
o
Lo n K
n d in
o g
Lo n K 's H
nd G a e
o C
m
Ne n U
wc CL
No ast H H
tti le R a e
m
n
Sa gh GC
lis am
b
Sh u r y
effi
el
d
Adult
Histopathology/Coroner's Service
London GSTT
Oxford RGC
London GOSH
Gilbert Syndrome
Birmingham RGC
Haemochromatosis
Bristol
Haemochromatosis, Type 4
Wilson Disease
Cambridge
London ION
≤3 labs offer this tests
Paediatric
Paediatric Hepatology
Bi
rm
i
Bi ngh
rm am
i
Ca ngh I M
m am D
b
Du rid RG
nd ge C
Ex ee
et
e
Liv r
er
p
Lo oo
nd l
o
Lo n I
nd ON
o
Lo n K
n d in
on g's
Lo
nd GO Ha e
o S
M nG H m
an S
c T
Ne hes T
wc ter
Ox ast
f o le M
r
Ox d H ito
fo ae
m
r
Sh d R
effi G C
W e ld
ale
sP
or
ph
yr
ia
Exeter
Aberdeen
London St Georges
Leeds
Alagille Syndrome 1
Dundee
Alagile Syndrome 2
Salisbury
Citrullinemia, Type II, Neonatal-Onset
Edinburgh
Coproporphyria, Hereditary
Crigler-Najjar Syndrome, Type I
0
Gilbert Syndrome
1
2
3
4
5
6
Number of tests
Hemochromatosis Type 2A and 2B
Hyperammonaemia/Urea Cycle Disorders 14 Gene
Panel Test
Hyperferritinemia With Or Without Cataract
Liver Failure, Infantile, Transient
Methylmalonic Acidemia (MMA) 11 Gene Panel
Progressive Familial Intrahepatic Cholestasis
Urea Cycle Defects (UCD) 9 Gene Panel
Urea Cycle Disorders 6 gene panel
Wilson Disease
56
www.ukgtn.nhs.uk
57
3.15 Histopathology & Coroner’s Service
Histopathology tests offered and laboratory providers
Joint Clinical Genetics/Metabolic Medicine Clinics
Histopathology/Coroners service
Ab
er
d
Bi ee
rm n
i
Br ngh
ist am
ol
RG
Ca
C
m
br
Ed id
g
in e
b
Du urg
nd h
Ex ee
et
e
Le r
ed
s
Lo
nd
o
Lo n I
nd ON
o
Lo n G
nd O
o S
Lo n G H
nd S
o T
M nS T
an t
c G
O hes eor
xf
or ter ges
Sa d R
l is G C
bu
ry
Achondrogenesis, Type II
Joint Clinics
Arrhythmogenic Right Ventricular Cardiomyopathy
(ARVC) 6 Gene Panel
Arrhythmogenic Right Ventricular Cardiomyopathy
(ARVC) 8 Gene Panel
No. clinics per
year
Metabolic / Genetics, Adult,
(Grampian)
North of Scotland
(Aberdeen)
GENERAL MEDICINE
(metabolic)
4
Metabolic-Genetics Family
SE Thames (Guys)
DISEASE
44
Metabolic
Leeds
DISEASE
10
Metabolic/genetics paediatric
(Grampian)
North of Scotland
(Aberdeen)
DISEASE
2
Neurometabolic
Birmingham
NEUROLOGY
24
Achondroplasia
Arrhythmia/Cardiac Arrest (BCL) 21 Gene Panel
Lead Specialty
Laboratories offering metabolic medicine tests
Adult Metabolic Medicine
Kearns-Sayre Syndrome
London GOSH
Marfan syndrome
Birmingham IMD
London GSTT
Paediatric Cardiomyopathy 71 Gene Panel
Sheffield
Spondyloepiphyseal Dysplasia Congenita and Kniest
Dysplasia
Thanatophoric Dysplasia
Birmingham RGC
Manchester
London UCLH Biochem
Exeter
Bristol
Salisbury
Oxford RGC
Edinburgh
Belfast
Aberdeen
Leeds
Glasgow
Glasgow
Dundee
Cambridge
Wales, Cardiff
Liverpool
0
2
4
6
8
10
Number of tests
58
www.ukgtn.nhs.uk
59
Metabolic medicine tests offered and laboratory providers
Paediatric Metabolic Medicine
Exeter
Adult
Manchester
London GSTT
Sheffield
Adult Metabolic Medicine
Birmingham IMD
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Bi ngh
rm am
in
Br gh I M
ist am D
o
RG
Ca l
C
m
b
Ed rid
in ge
b
Ex urg
et h
e
Gl r
as
g
Le ow
ed
s
Liv
er
po
Lo o
nd l
o
Lo n G
nd O
o S
Lo n G H
nd S
on TT
M
an UC
c L
O hes H B
xf
or ter ioch
em
Sa d R
lis G C
b
Sh u r y
effi
W e ld
al
es
,C
ar
di
ff
London GOSH
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase
Deficiency
Birmingham RGC
Bristol
Oxford RGC
London ION
Belfast
Newcastle Mito
London UCLH Biochem
Cambridge
Newcastle RGC
Leeds
Edinburgh
Aberdeen
Liverpool
Dundee
0
2
4
6
8
10
12
14
16
Number of tests
(NIPD)
Alpha-1-Antitrypsin Deficiency
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia
Due To
Hurler-Scheie Syndrome
Hypercholesterolaemia, Familial, 4 Gene Panel
Hypercholesterolemia, Familial
Hyperlipidemia Type 3
Hyperphenylalaninemia, BH4-Deficient, B
Krabbe Disease
Lipoprotein Lipase Deficiency
Lysosomal Acid Lipase Deficiency
Menkes Disease
Metachromatic Leukodystrophy
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Phenylketonuria
Tyrosinemia, Type I
60
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61
Paediatric Metabolic Disease
Paediatric I-Z
Paediatric Metabolic Disease
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Bi ngh
rm am
in
Br gh I M
ist am D
o
RG
Ca l
C
m
br
Du i d
g
nd e
Ed ee
in
b
Ex urg
et h
e
Le r
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n I
nd ON
on
Lo
nd GO
o S
Lo n G H
nd S
o T
M nU T
an C
ch LH
Ne es B
w ter ioc
c
he
Ne ast
m
w le M
ca
O st ito
xf le
or R
Sh d R GC
effi G C
el
d
Paediatric A-H
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Bi ngh
rm am
i
Br ngh I M
ist am D
ol
RG
Ca
C
m
b
Du rid
g
nd e
Ed ee
in
b
Ex urg
et h
e
Le r
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n I
nd ON
o
Lo n G
nd O
o n SH
Lo
nd GS
o T
M nU T
an C
c L
Ne hes H B
w ter ioc
c
he
Ne ast
m
w le M
ca
O st ito
xf le
or R
Sh d R GC
effi G C
el
d
Immunodysregulation, Polyendocrinopathy, And
Enteropathy, X-Linked
Lipoprotein Lipase Deficiency
Adenosine Monophosphate Deaminase 1
Adrenal Hyperplasia, Congenital, Due To 17-AlphaHydroxylase Deficiency
Deficiency
Carbamoyl Phosphate Synthetase I Deficiency,
Hyperammonemia Due To
Carnitine Palmitoyltransferase II Deficiency, Late-Onset
Lysosomal Acid Lipase Deficiency
Maturity-Onset Diabetes Of The Young
Menkes Disease
Methylmalonic Acidemia (MMA) 11 Gene Panel
Carnitine-Acylcarnitine Translocase Deficiency
Mitochondrial DNA Depletion 13 Gene Panel
Ceroid Lipofuscinosis, Neuronal 5, 6, 7 and 8
Mucolipidosis II and III Alpha/Beta
Cockayne Syndrome
Diabetes Mellitus, Insulin-Resistant, With Acanthosis
Nigricans
Diabetes Mellitus, Neonatal, With Congenital
Hypothyroidism
Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IVA
Neuraminidase Deficiency
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes
Mellitus
Fabry Disease
Ornithine Transcarbamylase Deficiency, Hyperammonemia
Due To
Pearson Marrow-Pancreas Syndrome
Phenylketonuria
Propionic Acidaemia
Pyruvate Carboxylase Deficiency
Galactosemia
Rhabdomyolysis/Metabolic Myopathies 30 gene panel
Gaucher Disease, Type I
Gaucher Disease, Type II
Tay-Sachs Disease
Gaucher Disease, Type III
Tyrosinemia, Type I
Glutaric Acidemia I
Glycine Encephalopathy
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB
Homocystinuria Due To Cystathionine Beta-Synthase
Deficiency
Hyperinsulinemic Hypoglycemia, Familial, 1
62
www.ukgtn.nhs.uk
63
3.17 Neonatology
3.17 Neonatology
Laboratories offering neonatal tests
Neonatology tests offered and laboratory providers
Oxford RGC
Sheffield
Neonatology
London GOSH
Ab
er
d
Bi ee
rm n
in
Bi gh
rm am
i
Br ngh I M
ist am D
ol
RG
Ca
C
m
b
Ed rid
in ge
bu
Ex rg
et h
e
Gl r
as
g
Liv ow
er
p
Lo oo
nd l
o
Lo n I
nd ON
o
Lo n K
n d in
o g
Lo n G 's H
nd O a e
o S
Lo n G H m
nd S
on TT
Ne
wc St G
No ast eor
tti le R ge
s
n
Ox gh GC
fo am
r
Sa d R
lis G C
b
Sh u r y
effi
W e ld
ale
sC
ar
di
ff
Neonatology
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered
Steroidogenesis
Apert Syndrome
Birmingham IMD
London GSTT
Arterial Calcification, Generalized, Of Infancy, 2
Exeter
Brachydactyly, Type B1
Bristol
Brachydactyly, Type D
London King's Haem
Brachydactyly, Type E1
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Wales Cardiff
Carnitine Palmitoyltransferase II Deficiency, Late-Onset
Salisbury
Newcastle RGC
Carnitine-Acylcarnitine Translocase Deficiency
Central Hypoventilation Syndrome, Congenital
Liverpool
Deafness, Aminoglycoside-Induced
Edinburgh
Galactosemia
Birmingham RGC
Nottingham
Glucose/galactose Malabsorption
London St Georges
London ION
Glasgow
Myotonic Dystrophy 1
Aberdeen
0
2
4
6
8
10
12
Porencephaly, Familial, 2 Gene Panel
Number of tests
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Spinal Muscular Atrophy, Type I
Surfactant Metabolism Dysfunction, Pulmonary, 1
64
www.ukgtn.nhs.uk
65
3.18 Nephrology
3.18 Nephrology
Joint Clinical Genetics/Adult Nephrology Clinics
Joint Clinics
Laboratories offering tests for nephrology
Lead Specialty
No. clinics per
year
Inherited Renal Disease
CLINICAL GENETICS
12
Joint adult renal genetic
Birmingham
CLINICAL GENETICS
10
Renal Genetics
Cambridge
NEPHROLOGY
44
Renal Genetics (Adult & Paeds)
Exeter (PGCS)
CLINICAL GENETICS/
NEPHROLOGY
4
Renal (adult)
Manchester
CLINICAL GENETICS
10
Renal Genetics
Park)
NEPHROLOGY
4
Renal
Sheffield
NEPHROLOGY
6
VHL/renal tumour predisposition/
adult renal genetic disorders
NEPHROLOGY
6
VHL/renal genetics
Park)
NEPHROLOGY
4
Adult Nephrology
London GOSH
Cambridge
Sheffield
Oxford RGC
London UCLH Biochem
London GSTT
Glasgow
Exeter
Bristol
Wales Cardiff
Newcastle RGC
Dundee
Birmingham RGC
Aberdeen
0
1
2
3
4
5
6
7
8
9
Number of tests
Joint Clinical Genetics/Paediatric Nephrology Clinics
Joint Clinics
Lead Specialty
Paediatric Nephrology
No. clinics per
year
London UCLH Biochem
Bardet Biedl syndrome
Birmingham
NEPHROLOGY
6
Cambridge
Renal genetic (paediatric)
Birmingham
CLINICAL GENETICS
4
Bristol
Renal genetics
Manchester
CLINICAL GENETICS
10
Renal (paediatric)
CLINICAL GENETICS
10
Sheffield
Oxford RGC
Newcastle RGC
London GSTT
Glasgow
0
1
2
3
4
Number of tests
66
www.ukgtn.nhs.uk
67
3.18 Nephrology
Paediatric
Nephrology tests offered and laboratory providers
Adult
Adult Nephrology
Ab
er
d
Bi ee
rm n
i
Br ngh
ist am
ol
RG
Ca
C
m
br
i
Du d
g
nd e
Ex ee
et
e
Gl r
as
g
Lo ow
nd
o
Lo n G
nd O
o S
Lo n G H
nd S
on TT
Ne
wc UCL
Ox ast H B
f o le R i o c
r
Sh d R GC hem
effi G C
W e ld
ale
sC
ar
di
ff
Alport 3 Gene Panel
Paediatric Nephrology
Br
ist
o
Ca l
m
b
Gl rid
as ge
g
Lo ow
nd
o
Lo n G
nd O
o S
Lo n G H
nd S
o T
Ne n U T
wc CL
Ox ast H B
f o le R io c
r
Sh d R GC hem
effi G C
el
d
3.18 Nephrology
Alport 3 Gene Panel
Alport Syndrome 5 Gene Panel
CFHR5 Nephropathy
Cystinosis, Adult Nonnephropathic
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Alport Syndrome 5 Gene Panel
Bardet-Biedl Syndrome 13 Gene Panel
Cystinosis, Nephropathic
Bartter Syndrome, Type 3
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
CFHR5 Nephropathy
Hyperoxaluria, Primary, Type 1
Cystinosis, Adult Nonnephropathic
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Hyperuricemic Nephropathy, Juvenile, and Medullary Cystic Kidney
Disease, Familial
Nephronophthisis 1
Cystinosis, Nephropathic
Cystinuria
Gitelman Syndrome
Glucocorticoid-Remediable Aldosteronism
Nephrotic Syndrome, Type 2
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Renal Tubular Acidosis, Distal, Autosomal Recessive
Steroid Resistant Nephrotic Syndrome (SRNS) 16 Gene Panel
Hyperuricemic Nephropathy, Juvenile, and Medullary Cystic Kidney
Disease, Familial
Liddle Syndrome
Nephronophthisis 1
Nephrotic Syndrome, Type 2
Polycystic Kidney Disease, Autosomal Dominant
Polycystic Kidney Disease, Autosomal Recessive
Renal Cell Carcinoma, Papillary, 1
Renal Tubular Acidosis, Distal, Autosomal Dominant
Renal Tubular Acidosis, Distal, Autosomal Recessive
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And
Electrolyte Imbalance
Steroid Resistant Nephrotic Syndrome (SRNS) 16 Gene Panel
68
www.ukgtn.nhs.uk
69
3.19 Neurology
3.19 Neurology
Joint Clinical Genetics/Adult Neurology Clinics
Joint Clinics
Joint Clinics
Lead Specialty
No. clinics per
year
Lead Specialty
No. clinics per
year
Neurogenetics (Adult)
Edinburgh
CLINICAL GENETICS/
NEUROLOGY
10
Ataxia/Neurogenetics
Oxford
NEUROLOGY
12
Neurogenetics
Exeter (PGCS)
CLINICAL GENETICS
4
CADASIL
NEUROLOGY
10
Neurogenetics
Leicester
ADULT NEUROLOGY
3
HD asymptomatic
All Wales
NEUROLOGY
10
Neurogenetics
Manchester
CLINICAL GENETICS
10
HD asymptomatic/early management
Birmingham
NEUROPSYCHIATRY
12
Neurogenetics
CLINICAL GENETICS
inpat
Huntington management /research
Cambridge
NEUROLOGY
44
Exeter (PGCS)
NEUROLOGY
6
North of Scotland
(Aberdeen)
NEUROLOGY
Huntington Disease
Neurology, adult, combined
(Grampian)
Huntington Management
Leeds
CLINICAL GENETICS /
NEUROLOGY
22
Neurogenetics
SE Thames (Guys)
CLINICAL GENETICS
4-6
Neurogenetics
CLINICAL GENETICS
10
Huntington Disease
Manchester
CLINICAL GENETICS
44
Neurology (Adult)
Tayside (Dundee)
10
Huntington Disease
NEUROLOGY
10
CLINICAL GENETICS/
NEUROLOGY
Huntington management (Grampian)
North of Scotland
(Aberdeen)
CLINICAL GENETICS
22
Neurogenetics
Wessex
CLINICAL GENETICS
10
Neurometabolic
Birmingham
NEUROLOGY
24
Huntington management (Highland)
North of Scotland
(Aberdeen)
CLINICAL GENETICS
6
Neuromuscular Genetic
Edinburgh
CLINICAL GENETICS/
NEUROLOGY
10
Huntington Disease
SE Thames (Guys)
CLINICAL GENETICS
10
Neuromuscular genetics
Exeter (PGCS)
CLINICAL GENETICS
1-2
Huntington Disease research
CLINICAL GENETICS
10
Neuromuscular
Oxford
NEUROLOGY
10
Huntington Disease
Wessex
CLINICAL GENETICS
4-5
Neuromuscular/Ventilation
All Wales
RESPIRATORY
4
Learning Disability (Adult)
Tayside (Dundee)
CLINICAL GENETICS /
LEARNING DISABILITY
3
Neurovascular Genetics (mainly
CADASIL)
West of Scotland
NEUROLOGY (Stroke)
10
Mitochondrial
Oxford
CLINICAL GENETICS
10
Wolfram syndrome
Birmingham
NEUROLOGY
4
Movement disorder
Belfast
CLINICAL GENETICS /
NEUROLOGY
4
Muscle
Belfast
NEUROLOGY
22
Muscle (Grampian)
North of Scotland
(Aberdeen)
NEUROLOGY
2
Muscle genetics (Adult)
West of Scotland
CLINICAL GENETICS
9
Oxford
CLINICAL GENETICS
24
Neurofibromatosis (NF1) craniofacial
Oxford
NEUROLOGY
2
Neurogenetics
Birmingham
CLINICAL GENETICS
6
Neurogenetics
Cambridge
CLINICAL GENETICS
10
Neurogenetics
Cardiff
CLINICAL GENETICS
3-4
70
www.ukgtn.nhs.uk
2
71
3.19 Neurology
3.19 Neurology
Joint Clinical Genetics/Paediatric Neurology Clinics
Joint Clinics
Lead Specialty
Laboratories offering tests for neurology
No. clinics per
year
Epilepsy Genetics
West of Scotland
PAEDIATRIC NEUROLOGY
4
Juvenile HD
Sheffield
CLINICAL GENETICS
2
Neuromuscular
Birmingham
NEUROLOGY
6
Neuromuscular
Oswestry (RJAH)
NEUROLOGY
2
Neuromuscular genetics (paediatric)
Cardiff
CLINICAL GENETICS
Neuromuscular genetics/EDS
Park)
4
Paediatric muscle
West of Scotland
5
Paediatric Neurodisability
Northern
CLINICAL GENETICS
10
Paediatric Neurogenetics
Edinburgh
CLINICAL GENETICS/
NEUROLOGY
4
Paediatric neurology / genetics
(Grampian)
North of Scotland
(Aberdeen)
2
Paediatric neurology (Highland)
North of Scotland
(Aberdeen)
2
Paediatric Neurology
Northern
CLINICAL GENETICS
4
Park)
4
Tayside (Dundee)
CLINICAL GENETICS/
NEUROLOGY
10
Paediatric neurology genetics
West of Scotland
44
Rett
Cardiff
CLINICAL GENETICS
4-6
Rett
Manchester
CLINICAL GENETICS
2
Rett
All Wales
CLINICAL GENETICS
3
72
3-4
Adult Neurology
London ION
Sheffield
Oxford RGC
Bristol
Birmingham RGC
Wales Cardiff
London GSTS
Liverpool
London GOSH
Cambridge
Exeter
Birmingham IMD
Aberdeen
Glasgow
Newcastle RGC
Salisbury
Leeds
Newcastle Mito
Edinburgh
Manchester
Dundee
London KGC
Nottingham
London St Georges
Belfast
0
10
20
30
40
50
Number of tests
www.ukgtn.nhs.uk
73
3.19 Neurology
3.19 Neurology
Neurology tests offered and laboratory providers
Adult A-C
London ION
Sheffield
Neurology
Oxford RGC
d
Sa RG
l is
C
bu
Sh ry
effi
e
W ld
al
es
Ca
rd
iff
Wales Cardiff
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Bi ngh
rm am
in
Br gh I M
ist am D
o
RG
Ca l
C
m
br
Du i d
nd ge
Ed ee
in
b
Ex urg
et h
e
Gl r
as
g
Le ow
ed
s
Liv
er
po
Lo o
nd l
o
Lo n I
nd ON
o
Lo n G
nd O
o S
Lo n K H
nd G
on C
Lo
nd GS
o T
M nS T
an t
ch Ge
Ne es or
wc ter ge
s
Ne ast
wc le M
a
No st ito
tti le R
Ox ngh GC
fo
r am
Adrenoleukodystrophy
London GSTT
Alexander Disease
London GOSH
Alzheimer Disease 3
Bristol
Amyloidosis, Hereditary, Transthyretin-Related
Amyotrophic Lateral Sclerosis / Frontotemporal
Amyotrophic Lateral Sclerosis 1
Exeter
Manchester
Liverpool
Amyotrophic Lateral Sclerosis 6 and 10
Ataxia, Hereditary, 37 Gene Panel
Cambridge
Ataxias, Inherited, 57 Gene Panel
Birmingham IMD
Brain Channelopathy 11 Gene Panel
Glasgow
Newcastle RGC
Salisbury
Brown-Vialetto-Van Laere Syndrome
Cerebral Arteriopathy, Autosomal Dominant, With
Subcortical Infarcts And Leukoencephalopathy
Cerebral Cavernous Malformations
Birmingham RGC
Ceroid Lipofuscinosis, Neuronal, 1
Aberdeen
London KGC
Charcot Marie Tooth Disease, Type 4C
Newcastle Mito
Charcot-Marie-Tooth Disease, Axonal, Type 2A2
Leeds
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Dundee
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Belfast
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Nottingham
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
London St Georges
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Edinburgh
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
0
5
10
15
20
25
30
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Number of tests
Charcot-Marie-Tooth Disease, Type 4A
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Charcot-Marie-Tooth Hereditary Neuropathy 54 Gene
Panel
Collagen VI Related Myopathy 3 Gene Panel
74
www.ukgtn.nhs.uk
75
Neurology
Insensitivity To Pain, Congenital, With Anhidrosis
Dentatorubral-Pallidoluysian Atrophy
Insensitvity to Pain, Congenital
Diabetes-Deafness Syndrome, Maternally
Transmitted
Dravet Syndrome
Learning Disability, Developmental Delay, Congenital
Anomalies (First Line)
Anomalies (Second Line)
Leber Optic Atrophy And Dystonia
Dystonia 1, Torsion, Autosomal Dominant
Dystonia 28 Gene Panel
Dystonia, Dopa-Responsive
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Machado-Joseph Disease
Emery-Dreifuss Muscular Dystrophy 2, Autosomal
Dominant
Epilepsy 53 Gene Panel
Malignant Hyperthermia Susceptibility 1 and 5
Menkes Disease
Epilepsy, Pyridoxine-Dependent
Migraine, Familial Hemiplegic, 1
Epileptic Encephalopathy, Early Infantile, 1
Mitochondrial DNA Depletion Syndrome 3
(Hepatocerebral Type)
Mitochondrial DNA Depletion Syndrome 4a (Alpers
Type)
Mitochondrial Myopathy
Sa RG
l is
C
bu
Sh ry
effi
e
W ld
al
es
Ca
rd
iff
Adult I-M
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Bi ngh
rm am
i
Br ngh I M
ist am D
ol
RG
Ca
C
m
b
Du r i d
g
nd e
Ed ee
in
b
Ex urg
et h
e
Gl r
as
go
Le w
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n I
nd ON
on
Lo
nd GO
o S
Lo n K H
nd G
o C
Lo n G
nd S
on TT
M
an St
c G
Ne hes eor
wc ter ge
s
Ne ast
wc le M
No ast ito
tti le R
Ox ngh GC
fo
rd am
Neurology
d
Sa RG
l is
C
bu
Sh ry
effi
e
W ld
al
es
Ca
rd
iff
Adult D-H
3.19 Neurology
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Bi ngh
rm am
i
Br ngh I M
ist am D
ol
RG
Ca
C
m
b
Du rid
nd ge
Ed ee
in
b
Ex urg
et h
e
Gl r
as
go
Le w
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n I
nd ON
on
Lo
nd GO
o S
Lo n K H
nd G
o C
Lo n G
nd S
on TT
M
an St
c G
Ne hes eor
wc ter ge
s
Ne ast
wc le M
No ast ito
tti le R
Ox ngh GC
fo
r am
3.19 Neurology
Episodic Ataxia, Type 1
Facioscapulohumeral Muscular Dystrophy 1A
Mitochondrial Myopathy, Encephalopathy, Lactic
Acidosis, And Stroke-Like Episodes
Muscular Dystrophy, Becker Type
Facioscapulohumeral Muscular Dystrophy 2
Fatty Acid Oxidation/Ketogenesis disorders 20 gene
panel
Muscle Channelopathy 4 Gene Panel
Muscular Dystrophy, Congenital, 31 Gene Panel Test
Friedreich Ataxia 1
Muscular Dystrophy, Limb-Girdle, Type 1B
Frontotemporal Dementia
Frontotemporal Dementia And/Or Amyotrophic
Lateral Sclerosis
Frontotemporal Lobar Degeneration With TDP43
Inclusions, Grn-Related
Muscular Dystrophy-Dystroglycanopathy (limbGirdle), Type C, 5
Myasthenia, Limb-Girdle, Familial
Generalised Epilepsy with Febrile Seizures Plus,
including Familial Seizures, Childhood Absence Epilepsy
Myasthenic Syndrome, Congenital, Associated With
Acetylcholine Receptor Deficiency
Episodic Apnea
Myasthenic Syndrome, Congenital, Fast-Channel
Myasthenic Syndrome, Congenital, Slow-Channel
Myasthenic Syndrome, Congenital, With Tubular
Aggregates 1
Myoclonic Dystonia
Myasthenia, Limb-Girdle, With Tubular Aggregates Type
2 And Congenital Disorder Of Glycosylation, Type Ij
Glut1 Deficiency Syndrome 1
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Hemiplegic Migraine 6 Gene Panel
Myoclonic Epilepsy Of Unverricht And Lundborg
Hereditary Distal Neuropathy, Autosomal Dominant
Hereditary Motor and Sensory Neuropathy 50 Gene
Panel
Hereditary Spastic Paraplegia 20 Gene Panel
Myopathy, Congenital 22 Gene Panel
Heterotopia, Periventricular, X-Linked Dominant
Huntington Disease
Huntington Disease-Like 2
Hyperammonaemia/Urea Cycle Disorders 14 Gene
Panel Test
Hyperekplexia, Hereditary
Hyperkalemic Periodic Paralysis
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypokalemic Periodic Paralysis, Type 1
76
www.ukgtn.nhs.uk
77
Paediatric A-D
Neurodegeneration With Brain Iron Accumulation 1
Adrenoleukodystrophy
Neurodegeneration With Brain Iron Accumulation 2A
Alexander Disease
Neurofibromatosis, Schwannomas and Café Au Lait 5
Gene Panel
Neurofibromatosis, Type I
Allan-Herndon-Dudley Syndrome
Amyotrophic Lateral Sclerosis / Frontotemporal
Angelman Syndrome
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Bi ngh
rm am
in
Br gh I M
ist am D
o
RG
Ca l
C
m
br
Du id
nd ge
Ed ee
in
b
Ex urg
et h
e
Gl r
as
g
Le ow
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n I
nd ON
o
Lo n G
nd O
o n SH
Lo
nd KG
o C
Lo n G
nd S
o T
M nS T
an t
ch Ge
Ne es or
wc ter ge
s
Ne ast
wc le M
a
i
No st to
tti le R
n
Ox gh GC
fo am
rd
Sa R
lis G C
b
Sh u r y
effi
W e ld
ale
sC
ar
di
ff
Neurology
d
Sa RG
l is
C
bu
Sh ry
effi
e
W ld
al
es
Ca
rd
iff
Adult N-Z
3.19 Neurology
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Bi ngh
rm am
in
Br gh I M
ist am D
o
RG
Ca l
C
m
b
Du rid
nd ge
Ed ee
in
b
Ex urg
et h
e
Gl r
as
g
Le ow
ed
s
Liv
er
po
Lo o
nd l
o
Lo n I
nd ON
on
Lo
nd GO
o S
Lo n K H
nd G
on C
Lo
nd GS
o T
M nS T
an t
ch Ge
Ne es or
wc ter ge
s
Ne ast
wc le M
No ast ito
tti le R
Ox ngh GC
fo
r am
3.19 Neurology
Ataxia, Hereditary, 37 Gene Panel
Ataxias, Inherited, 57 Gene Panel
Neuropathy, Ataxia, And Retinitis Pigmentosa
Neuropathy, Congenital Hypomyelinating
Ataxia-Telangiectasia (Cytogenetic Laboratory Test)
Neuropathy, Hereditary Sensory & Autonomic, Type IA
Neuropathy, Hereditary Sensory & Autonomic, Type III
Neuropathy, Hereditary Sensory & Autonomic, Type V
Athabaskan Brainstem Dysgenesis Syndrome
Baraitser-Winter Syndrome
Neuropathy, Hereditary, With Liability To Pressure
Palsies
Oculopharyngeal Muscular Dystrophy
Brain Channelopathy 11 Gene Panel
Canavan Disease
Cerebral Malformation Disorders 8 Gene Panel
Pallister-Hall Syndrome
Parkinson Disease 6 Gene Panel
Parkinson Disease 6 and 7
Parkinson Disease 8, Autosomal Dominant
Paroxysmal Kinesigenic Dyskinesia and Benign
Familial Infantile convulsions With or Without
Choreoathetosis, Familial
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Perry syndrome
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Polymicrogyria, Bilateral Frontoparietal
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Polymicrogyria, Symmetric Or Asymmetric
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Porencephaly
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Progressive External Ophthalmoplegia With
Mitochondrial DNA Deletions
Progressive External Ophthalmoplegia with
Mitochondrial DNA Deletions 13 Gene Panel
Rhabdomyolysis/Metabolic Myopathies 30 gene
panel
Schwannomatosis
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Charcot-Marie-Tooth Disease, Type 4A
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Charcot-Marie-Tooth Hereditary Neuropathy 54
Gene Panel
Cockayne Syndrome
Congenital Muscular Dystrophy 31 Gene Panel Test
Dravet Syndrome
Spastic Paraplegia 3, Autosomal Dominant
Dystonia 28 Gene Panel
Dystonia, Dopa-Responsive
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Spinocerebellar Ataxia 1
Osler, And Weber
78
www.ukgtn.nhs.uk
79
Paediatric I-M
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Emery-Dreifuss Muscular Dystrophy 2, Autosomal
Dominant
Epilepsy 53 Gene Panel
Leigh Syndrome
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Bi ngh
rm am
i
Br ngh I M
ist am D
ol
RG
Ca
C
m
br
Du i d
nd ge
Ed ee
in
b
Ex urg
et h
e
Gl r
as
go
Le w
ed
s
Liv
er
po
Lo o
nd l
o
Lo n I
nd ON
on
Lo
nd GO
o S
Lo n K H
nd G
on C
Lo
nd GS
o T
M nS T
an t
ch Ge
Ne es or
wc ter ge
s
Ne ast
wc le M
a
i
No st to
tti le R
n
Ox gh GC
fo am
r
Sa d R
lis G C
b
Sh u r y
effi
W e ld
ale
sC
ar
di
ff
Paediatric E-K
3.19 Neurology
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Bi ngh
rm am
i
Br ngh I M
ist am D
ol
RG
Ca
C
m
b
Du rid
nd ge
Ed ee
in
b
Ex urg
et h
e
Gl r
as
g
Le ow
ed
s
Liv
er
po
Lo o
nd l
o
Lo n I
nd ON
o
Lo n G
nd O
o n SH
Lo
nd KG
o C
Lo n G
nd S
o T
M nS T
an t
ch Ge
Ne es or
wc ter ge
s
Ne ast
wc le M
a
No st ito
tti le R
n
Ox gh GC
fo am
rd
Sa R
li s G C
b
Sh u r y
effi
W e ld
ale
sC
ar
di
ff
3.19 Neurology
Lesch-Nyhan Syndrome
Lissencephaly 1
Epilepsy, Pyridoxine-Dependent
Lissencephaly 3
Epileptic Encephalopathy, Early Infantile (EIEE) 67
Gene Panel
Lissencephaly, X-Linked, 1
Lissencephaly, X-Linked, 2
Menkes Disease
Mental Retardation, X-Linked, Associated With
Fragile Site Fraxe
Microcephaly 1, Primary, Autosomal Recessive
Microcephaly 2, Primary, Autosomal Recessive, With
Or Without Cortical Malformations
Facioscapulohumeral Muscular Dystrophy 1A
Fibrosis Of Extraocular Muscles, Congenital, 1
Migraine, Familial Hemiplegic, 1
Fibrosis of Extraocular Muscles, Congenital, 2
Fibrosis Of Extraocular Muscles, Congenital, 3A,
With Or Without Extraocular Involvement
Fragile X Mental Retardation Syndrome
Mitochondrial DNA Depletion Syndrome 3
(Hepatocerebral Type)
Mitochondrial DNA Depletion Syndrome 4a (Alpers
Type)
Mitochondrial Myopathy
Friedreich Ataxia 1
Generalised Epilepsy with Febrile Seizures Plus,
including Familial Seizures, Childhood Absence
Epilepsy
Glut1 Deficiency Syndrome 1
Mitochondrial Myopathy, Encephalopathy, Lactic
Acidosis, And Stroke-Like Episodes
Mucopolysaccharidosis Type II
Glutaric Acidemia I
Glycine Encephalopathy
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IVA
Muscle Channelopathy 4 Gene Panel
Muscular Dystrophy, Becker Type
Muscular Dystrophy, Congenital, 31 Gene Panel Test
Muscular Dystrophy, Duchenne Type
Hemiplegic Migraine 6 Gene Panel
Muscular Dystrophy, Limb-Girdle, Type 1B
Hereditary Distal Neuropathy, Autosomal Dominant
Muscular Dystrophy-Dystroglycanopathy (limbGirdle), Type C, 5
Myasthenia, Limb-Girdle, Familial
Myasthenia, Limb-Girdle, With Tubular Aggregates
Type 2 And Congenital Disorder Of Glycosylation,
Type Ij
Acetylcholine Receptor Deficiency
Episodic Apnea
Myasthenic Syndrome, Congenital, Fast-Channel
Hereditary Motor and Sensory Neuropathy 50 Gene
Panel
Heterotopia, Periventricular, X-Linked Dominant
Homocystinuria Due To Cystathionine Beta-Synthase
Deficiency
Hydrocephalus Due To Congenital Stenosis Of
Aqueduct Of Sylvius
Hyperekplexia, Hereditary
Hyperkalemic Periodic Paralysis
Myasthenic Syndrome, Congenital, Slow-Channel
Myasthenic Syndrome, Congenital, With Tubular
Aggregates 1
Hypokalemic Periodic Paralysis, Type 1
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Insensitivity To Pain, Congenital, With Anhidrosis
Myoclonic Epilepsy Of Unverricht And Lundborg
Insensitvity to Pain, Congenital
Myopathy, Congenital 22 Gene Panel
Krabbe Disease
80
www.ukgtn.nhs.uk
81
Paediatric N-Z
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Bi ngh
rm am
i
Br ngh I M
ist am D
o
RG
Ca l
C
m
br
Du id
nd ge
Ed ee
in
b
Ex urg
et h
e
Gl r
as
g
Le ow
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n I
nd ON
o
Lo n G
nd O
o S
Lo n K H
nd G
o C
Lo n G
nd S
o T
M nS T
an t
ch Ge
Ne es or
wc ter ge
s
Ne ast
wc le M
a
No st ito
tti le R
n
Ox gh GC
fo am
rd
Sa R
lis G C
b
Sh u r y
effi
W e ld
ale
sC
ar
di
ff
3.19 Neurology
Joint Clinical Genetics/Fetal Medicine Clinics
Joint Clinics
Neurodegeneration With Brain Iron Accumulation 2A
Neuropathy, Ataxia, And Retinitis Pigmentosa
Neuropathy, Hereditary Sensory & Autonomic, Type V
Laboratory Test)
Parkinson Disease 2, Autosomal Recessive Juvenile
Paroxysmal Kinesigenic Dyskinesia and Benign
Familial Infantile convulsions With or Without
Choreoathetosis, Familial
Partington X-Linked Mental Retardation Syndrome
Pelizaeus-Merzbacher Disease
Polymicrogyria, Bilateral Frontoparietal
OBSTETRICS
22
Antenatal
North of Scotland
(Aberdeen)
OBSTETRICS
10
Fetal Assessment
Northern
CLINICAL GENETICS/
OBSTETRICS
44
Fetal Medicine
Belfast
OBSTETRICS (Fetal
Medicine)
44
Fetal medicine / genetics
Birmingham
OBSTETRICS (Fetal
Medicine)
10
Fetal medicine
Cambridge
CLINICAL GENETICS
44
Fetal Medicine
Edinburgh
CLINICAL GENETICS/
OBSTETRICS
44
Fetal Medicine
Edinburgh
CLINICAL GENETICS/
OBSTETRICS
44
Fetal Medicine
SE Thames (Guys)
CLINICAL GENETICS
44
Fetal Medicine
Wessex
FETAL MEDICINE
Perinatal Mortality Group
Tayside (Dundee)
CLINICAL GENETICS
10
PGD
Exeter (PGCS)
CLINICAL GENETICS/
FERTILITY
12
PGD
Leeds
FERTILITY TEAM
10
PGD
Sheffield
CLINICAL GENETICS
44
PGD
West of Scotland
GYNAECOLOGY
22
Postnatal loss
North of Scotland
(Aberdeen)
OBSTETRICS
10
Pregnancy Group
Tayside (Dundee)
CLINICAL GENETICS
3
Prenatal
Exeter (PGCS)
CLINICAL GENETICS/FETAL
MEDICINE
Prenatal
Leeds
CLINICAL GENETICS /
NEONATOLOGY
44
Prenatal
Leicester
CLINICAL GENETICS
52
Prenatal
CLINICAL GENETICS
52
Prenatal
West of Scotland
OBSTETRICS (Fetal
Medicine)
44
Polymicrogyria, Symmetric Or Asymmetric
Pontocerebellar Hypoplasia 12 Gene Panel Test
Porencephaly
Prader-Willi Syndrome
Progressive External Ophthalmoplegia With
Mitochondrial DNA Deletions
Progressive External Ophthalmoplegia with
Mitochondrial DNA Deletions 13 Gene Panel
Rett Syndrome
Rett Syndrome, Congenital Variant
Rigid Spine Muscular Dystrophy 1
Sandhoff Disease
Segawa Syndrome, Autosomal Recessive
Seizures, Benign Familial Neonatal, 1
Spinal Muscular Atrophy, Type II
Spinal Muscular Atrophy, Type III
Tay-Sachs Disease
Vici Syndrome
82
No. clinics per
year
North of Scotland
(Aberdeen)
Neuropathy, Congenital Hypomyelinating
Neuropathy, Hereditary Sensory & Autonomic, Type III
Lead Specialty
Antenatal haematology / genetics
Neurofibromatosis, Type I
www.ukgtn.nhs.uk
As required
Ad hoc ~6
83
Lead Specialty
No. clinics per
year
Pre-pregnancy Epilepsy
North of Scotland
(Aberdeen)
OBSTETRICS
10
Neurogenetics
Cambridge
CLINICAL GENETICS
10
Neurogenetics
Cardiff
CLINICAL GENETICS
3-4
Laboratories offering tests for obstetrics & fetal medicine
There are other disorders that Obstetric & Fetal Medicine teams may request in consultation with clinical genetics e.g.
cystic fibrosis and fragile X Metal Retardation syndrome
Obstetrics/Fetal Medicine
Achondrogenesis, Type II
Achondroplasia
Deficiency (NIPD)
Antley-Bixler Syndrome With Genital Anomalies And
Disordered Steroidogenesis
Antley-Bixler Syndrome Without Genital Anomalies Or
Apert Syndrome
Obstetrics and Fetal Medicine
Oxford RGC
London GOSH
London GSTT
Manchester
London St Georges
Cambridge
Bristol
Oxford Haem
London King's Haem
Birmingham RGC
Salisbury
Sheffield
Liverpool
London UCLH Haem
Edinburgh
Wales Cardiff
Nottingham
Newcastle RGC
London KGC
Glasgow
Aberdeen
Obstetrics & fetal medicine tests offered and laboratory providers
Ab
er
d
Bi ee
rm n
in
Br gh
ist am
o
RG
Ca l
C
m
b
Ed rid
in ge
b
Gl urg
as h
g
Liv ow
er
p
Lo oo
nd l
o
Lo n K
n d in
on g's
Lo
nd GO Ha e
o S
Lo n K H m
nd G
on C
Lo
nd GS
o T
Lo n S T
nd t G
on e
M
o
an UC rge
L
c
s
Ne hes H H
wc ter a e
m
No ast
tti le R
ng G
Ox h C
fo am
r
Ox d H
fo ae
m
r
Sa d R
l is G C
bu
Sh r y
effi
W e ld
ale
sC
ar
di
ff
Joint Clinics
Apert Syndrome (NIPD)
Beckwith-Wiedemann Syndrome
Beta-Thalassemia
Cystic Fibrosis (NIPD)
FGFR3-Related Skeletal Dysplasias Panel Test (NIPD)
Fumarase Deficiency
Hypochondroplasia
Noonan Spectrum Disorders 12 Gene Panel
Spondyloepiphyseal Dysplasia Congenita and Kniest Dysplasia
Thanatophoric Dysplasia
X-Linked Conditions excluding Haemophilia (NIPD)
Sex Determination For X-Linked Conditions For Disorders That
Manifest Significantly Different In One Sex Compared To The
Other
0
2
4
6
8
10
12
Number of tests
84
www.ukgtn.nhs.uk
85
3.21 Ophthalmology
3.21 Ophthalmology
Joint Clinical Genetics/Adult Ophthalmology Clinics
Joint Clinics
Eye
Bristol
Eye (joint)
Cardiff
Eye genetic (Adult)
Eye Genetics
Edinburgh
Leicester
Lead Specialty
MEDICAL
OPHTHALMOLOGY
Laboratories offering tests for ophthalmology
No. clinics per
year
Adult Ophthalmology
10
Manchester
4-6
Cambridge
Salisbury
Sheffield
CLINICAL GENETICS/
MEDICAL
OPHTHALMOLOGY
10-20
MEDICAL
OPHTHALMOLOGY
4
Wales Cardiff
Oxford RGC
Leeds
Nottingham
Birmingham IMD
London ION
Ophthalmic Genetic
Birmingham
CLINICAL GENETICS
33
Ophthalmic Genetics
Exeter (PGCS)
CLINICAL GENETICS/
OPHTHALMOLOGY
4
Newcastle Mito
London GSTS
London Rb
London GOSH
Ophthalmic genetic (adult)
Manchester
CLINICAL GENETICS
33
Exeter
Ophthalmology and Genetics
SE Thames (Guys)
CLINICAL GENETICS
10
Liverpool
Opthalmology (joint)
Tayside (Dundee)
CLINICAL GENETICS/
MEDICAL
OPHTHALMOLOGY
10
Bristol
0
1
2
3
4
5
6
7
8
9
Number of tests
Ophthalmology Genetics
Wessex
MEDICAL
OPHTHALMOLOGY
10
Retinoblastoma BCH
Birmingham
OPHTHALMOLOGY
44
Joint Clinical Genetics/Paediatric Ophthalmology Clinics
Joint Clinics
Lead Specialty
No. clinics per
year
Paediatric Eye genetic
Edinburgh
CLINICAL
GENETICS/MEDICAL
OPHTHALMOLOGY
6
Leeds
PAEDIATRIC
OPHTHALMOLOGY
10
Paediatric Ophthalmic genetics
Manchester
CLINICAL GENETICS
44
Sheffield
MEDICAL
OPHTHALMOLOGY
10
Retinoblastoma
Birmingham
PAEDIATRIC
OPHTHALMOLOGY
44
86
www.ukgtn.nhs.uk
87
3.21 Ophthalmology
3.21 Ophthalmology
Ophthalmology tests offered and laboratory providers
Paediatric Ophthalmology
Manchester
Exeter
Oxford RGC
Adult Ophthalmology
Nottingham
Alport 3 Gene Panel
London ION
Aniridia
Bi
rm
i
Br ngh
ist am
ol
IM
Ca
D
m
br
Ex id
et ge
e
Le r
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n I
nd ON
o
Lo n G
nd O
o S
Lo n R H
nd b
o
M nG
an S
ch TT
Ne es
wc ter
No ast
tti le M
n
Ox gh ito
fo am
rd
Sa R
lis G C
b
Sh u r y
effi
W e ld
ale
sC
ar
di
ff
Adult
Salisbury
Axenfeld-Rieger Syndrome
London Rb
Bardet-Biedl Syndrome 13 Gene Panel
London GOSH
Leeds
Bestrophinopathy
Blepharophimosis, Ptosis, And Epicanthus Inversus
Cataract, Congenital 113 Gene Panel
Cambridge
Choroideremia
Exudative Vitreoretinopathy
Bristol
Wales Cardiff
Sheffield
Fundus Dystrophy, Pseudoinflammatory, Of Sorsby
Liverpool
Glaucoma 1, Open Angle, A
Leber Optic Atrophy
Birmingham IMD
0
1
2
3
4
5
Microphthalmia, Syndromic 3
6
Number of tests
Nystagmus 1, Congenital, X-Linked
Optic Atrophy 1
Retinal Degeneration 105 Gene Panel
Retinal Degeneration 55 Gene Panel
Retinitis Pigmentosa
Retinoblastoma
Retinoschisis 1, X-Linked, Juvenile
Stickler 8 Gene Panel
Stickler Syndrome Type III and related conditions
Stickler Syndrome, Type I
Stickler Syndrome, Type II
Wagner Syndrome 1
88
www.ukgtn.nhs.uk
89
3.22 Orthopaedics
3.21 Ophthalmology
Paediatric
Bi
rm
i
Br ngh
ist am
ol
IM
Ca
D
m
br
Ex id
et ge
e
Le r
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n I
nd ON
o
Lo n G
nd O
o n SH
M
an Rb
c
No hes
tti ter
n
Ox gh
fo am
rd
Sa R
li s G C
b
Sh u r y
effi
W e ld
ale
sC
ar
di
ff
Paediatric Ophthalmology
Joint Clinical Genetics/Orthopaedics Clinics
Aniridia
Joint Clinics
Lead Specialty
No. clinics per
year
Arthrogryposis
Birmingham
TRAUMA & ORTHOPAEDICS
8
Arthrogryposis
Oswestry (RJAH)
ORTHOPAEDICS
2
Arthrygryposis MDT
West of Scotland
PAEDIATRIC TRAUMA AND
ORTHOPAEDICS
4
Bone genetics
Park)
PAEDIATRICS
2
Hereditary Multiple Exostoses
Northern
CLINICAL GENETICS
4
Orthopaedic
Wessex
CLINICAL GENETICS
3
Kearns Sayre syndrome
Orthopaedic (Oswestery)
Cardiff
2-4
Leber Optic Atrophy
Skeletal Dysplasia (Oswestry)
Birmingham
PAEDIATRIC TRAUMA AND
ORTHOPAEDICS
4
Skeletal dysplasia
Bristol
Skeletal Dysplasia
Exeter (PGCS)
CLINICAL GENETICS/
PAEDIATRIC
ORTHOPAEDICS
2
Skeletal Dysplasia
Leicester
2
Skeletal Dysplasia
Manchester
GENOMIC MEDICINE
3
Skeletal Dysplasia
Northern
CLINICAL GENETICS
10
Skeletal Dysplasia (Middlesbrough)
Northern
CLINICAL GENETICS
6
Skeletal Dysplasia
Nottingham
6
Skeletal Dysplasia
Oxford
RHEUMATOLOGY
10
Skeletal Dysplasia Service
SE Thames (Guys)
CLINICAL GENETICS
4
Skeletal dysplasia
Sheffield
4
Skeletal dysplasia
Stoke (UHNS)
ORTHOPAEDICS
4
Upper limb
Birmingham
PLASTICS
Axenfeld-Rieger Syndrome
Bestrophinopathy
Blepharophimosis, Ptosis, And Epicanthus Inversus
Cataract, Congenital 113 Gene Panel
Exudative Vitreoretinopathy
Fibrosis Of Extraocular Muscles, Congenital, 1
Fibrosis of Extraocular Muscles, Congenital, 2
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or
Without Extraocular Involvement
Glaucoma 3, Primary Congenital, A
Norrie Disease
Nystagmus 1, Congenital, X-Linked
Retinoblastoma
Retinoschisis 1, X-Linked, Juvenile
90
www.ukgtn.nhs.uk
10
91
3.23 Paediatrics
3.23 Paediatrics
Joint Clinical Genetics/Paediatric Clinics
Joint Clinics
Joint Clinics
Lead Specialty
No. clinics per
year
Lead Specialty
No. clinics per
year
Manchester
CLINICAL GENETICS
104-156
SE Thames (Guys)
NEUROLOGY
10
Sheffield
PAEDIATRICS
4
Tayside (Dundee)
CLINICAL GENETICS/
GENERAL SURGERY
5-6
Neurofibromatosis (NF1)/Tuberous
sclerosis
Belfast
CLINICAL GENETICS
10
Neurofibromatosis type 2 (NF2)
Birmingham
PAEDIATRIC EAR NOSE
AND THROAT
3
Osteogenesis imperfecta and
metabolic bone disorders
Birmingham
PAEDIATRIC
ENDOCRINOLOGY
2
Osteogenesis imperfecta
Sheffield
PAEDIATRICS
10
Northern (with Sheffield)
CLINICAL GENETICS
2
Bristol
Tuberous sclerosis
All Wales
CLINICAL GENETICS
20
22q
Cambridge
CLINICAL GENETICS
2
22q11
All Wales
IMMUNOLOGY
4
Alstrom
Birmingham
PAEDIATRIC
ENDOCRINOLOGY
4
Bardet Biedl syndrome
Birmingham
PAEDIATRIC
ENDOCRINOLOGY
7
Barth
Bristol
Cardiac genetics paediatric
(Grampian)
North of Scotland
(Aberdeen)
CLINICAL GENETICS
1
Child development centre
West of Scotland
CLINICAL GENETICS
22
dysmorphology
Nottingham
COMMUNITY PAEDIATRICS
6
Children’s deafness
Birmingham
CLINICAL GENETICS
4
Tuberous sclerosis
Cambridge
PAEDIATRICS/NEUROLOGY
4
Community child health genetics
Wessex
4
Tuberous sclerosis
Manchester
GENOMIC MEDICINE
4
Congenital upper limb abnormalities
Birmingham
PAEDIATRIC PLASTIC
SURGERY
6
Tuberous sclerosis
CLINICAL GENETICS
12
Dysmorphology
GOSH
CLINICAL GENETICS
44
Tuberous sclerosis
West of Scotland
CLINICAL GENETICS
6
Gastroenterology paediatric
Tayside (Dundee)
CLINICAL GENETICS/
GASTROENTEROLOGY
3
Wolfram
Birmingham
PAEDIATRIC
ENDOCRINOLOGY
4
Genetic deafness
GOSH
CLINICAL GENETICS
44
Marfan paediatric
Cardiff
6-8
Marfan paediatric
Edinburgh
CLINICAL GENETICS/
4
Metabolic
Leeds
DISEASE
10
Metabolic/genetics clinic paediatric
(Grampian)
North of Scotland
(Aberdeen)
DISEASE
2
Mucopolysaccharidosis
Belfast
CLINICAL GENETICS
2
National Ataxia Telangiectasia
(children)
Nottingham
CLINICAL GENETICS
6
Birmingham
PAEDIATRICS
8
Leeds
CLINICAL GENETICS
92
2
10
tbc
www.ukgtn.nhs.uk
93
3.23 Paediatrics
3.23 Paediatrics
Laboratories offering paediatrics tests
Paediatric tests offered and laboratory providers
Paediatrics A-F
Exeter
Sheffield
Oxford RGC
London GOSH
Cambridge
Birmingham RGC
Manchester
Wales Porphyria
Leeds
London St Georges
Salisbury
London GSTT
Birmingham IMD
Bristol
London King's Haem
Glasgow
Dundee
Nottingham
Wales Cardiff
Newcastle RGC
Liverpool
Belfast
Edinburgh
Paediatrics
Be
l
Paediatrics
fa
Bi st
rm
i
Bi ngh
rm am
i
Br ngh I M
ist am D
ol
RG
Ca
C
m
br
Du i d
nd ge
Ed ee
in
b
Ex urg
et h
e
Gl r
as
g
Le ow
ed
s
Liv
er
po
Lo o
nd l
o
Lo n K
n d in
o g
Lo n G 's H
nd O a e
o n SH m
Lo
nd GS
o T
M nS T
an t
ch Ge
Ne es or
wc ter ge
s
No ast
tti le R
ng G
Ox h C
fo am
r
Sa d R
lis G C
bu
Sh r y
effi
W e ld
ale
W s Ca
ale rd
s P iff
or
ph
yr
ia
Achondroplasia
Alagille Syndrome 1
Alagille Syndrome 2
Allan-Herndon-Dudley Syndrome
Alstrom Syndrome
Angelman Syndrome
Angioedema, Hereditary, Type I
Angioedema, Hereditary, Type III
Antley-Bixler Syndrome With Genital Anomalies And
Antley-Bixler Syndrome Without Genital Anomalies Or
Apert Syndrome
Arterial Calcification, Generalized, Of Infancy, 2
Barth Syndrome
Beckwith-Wiedemann Syndrome
Central Hypoventilation Syndrome, Congenital
Citrullinemia, Type II, Neonatal-Onset
0
5
10
15
20
Cleidocranial Dysplasia
25
Collagen VI Related Myopathy 3 Gene Panel
Number of tests
Diabetes Insipidus, Nephrogenic, X-Linked
Diabetes Mellitus, Insulin-Resistant, With Acanthosis
Nigricans
Donohue Syndrome
Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
Fumarase Deficiency
94
www.ukgtn.nhs.uk
95
Paediatrics R-Z
Paediatrics
Rett Syndrome
Gilbert Syndrome
Rett Syndrome, Congenital Variant
Glucose/galactose Malabsorption
Rhabdomyolysis/Metabolic Myopathies 30 gene panel
Rubinstein-Taybi Syndrome
Sandhoff Disease
Short Syndrome
Shwachman-Diamond Syndrome
Silver-Russell Syndrome
Sotos Syndrome
Hemihyperplasia, Isolated
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Hirschsprung Disease, Susceptibility To, 1
Spinal Muscular Atrophy, Type I
Be
lfa
Bi st
rm
i
Bi ngh
rm am
in
Br gh I M
ist am D
o
RG
Ca l
C
m
b
Du r i d
g
nd e
Ed ee
in
b
Ex urg
et h
e
Gl r
as
go
Le w
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n K
n d in
o g
Lo n G 's H
nd O a e
o S
Lo n G H m
nd S
o T
M nS T
an t
ch Ge
Ne es or
wc ter ge
s
No ast
tti le R
n
Ox gh GC
fo am
r
Sa d R
li s G C
b
Sh u r y
effi
W e ld
ale
W s Ca
ale rd
s P iff
or
ph
yr
ia
Paediatrics
Be
l
Paediatrics G-Q
3.23 Paediatrics
fa
Bi st
rm
i
Bi ngh
rm am
i
Br ngh I M
ist am D
ol
RG
Ca
C
m
b
Du r i d
nd ge
Ed ee
in
b
Ex urg
et h
er
Gl
as
g
Le ow
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n K
n d in
on g's
Lo
nd GO Ha e
o S
Lo n G H m
nd S
o T
M nS T
an t
ch Ge
Ne es or
wc ter ge
s
No ast
tti le R
n
Ox gh GC
fo am
r
Sa d R
l is G C
b
Sh u r y
effi
W e ld
ale
W s Ca
ale rd
s P iff
or
ph
yr
ia
3.23 Paediatrics
Spinal Muscular Atrophy, Type II
Hutchinson-Gilford Progeria Syndrome
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of
Sylvius
Spinal Muscular Atrophy, Type III
Spondylocostal Dysostosis 1, Autosomal Recessive
Spondylocostal Dysostosis 2, Autosomal Recessive
Spondylocostal Dysostosis 5 Gene Panel Test
Syndromic and Non Syndromic Hearing Loss 95 Gene Panel
Thiamine-Responsive Megaloblastic Anemia Syndrome
Townes-Brocks Syndrome
Hypochondroplasia
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Popliteal Pterygium Syndrome
Van Der Woude Syndrome 1
Hypothyroidism, Congenital, Nongoitrous, 1
Incontinentia Pigmenti
Anomalies (Second Line)
Microcephaly 2, Primary, Autosomal Recessive, With Or
Without Cortical Malformations
Mucolipidosis II and III Alpha/Beta
Neonatal Diabetes 22 Gene Panel
Osteopetrosis 21 Gene Panel
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus,
And Somatic Abnormalities
Primary Ciliary Dyskinesia 18 Gene Panel
Pseudoachondroplasia
Pseudohypoparathyroidism, Type Ia
96
www.ukgtn.nhs.uk
97
3.23.1 Community Paediatrics
3.23.1 Community Paediatrics
Joint Clinics
Community paediatric tests offered and laboratory providers
Lead Specialty
No. clinics per
year
dysmorphology
Nottingham
6
Community child health genetics
Wessex
4
Community Paediatrics
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Br ngh
ist am
o
RG
Ca l
C
m
br
Ed id
in ge
b
Gl urg
as h
g
Le ow
ed
s
Liv
er
po
Lo o
nd l
o
Lo n G
nd O
o S
Lo n K H
nd G
on C
Lo
nd GS
o T
M nS T
an t
c G
Ne hes eor
wc ter ge
s
No ast
tti le R
n
Ox gh GC
fo am
rd
Sa R
lis G C
b
Sh u r y
effi
W e ld
ale
sC
ar
di
ff
Joint Clinical Genetics/Community Paediatric Clinics
Alexander Disease
Laboratories offering community paediatrics tests
Angelman Syndrome
Mental Retardation, X-Linked, Associated With Fragile
Site Fraxe
Community Paediatrics
Salisbury
Wales Cardiff
London KGC
Bristol
Leeds
Oxford RGC
Nottingham
Newcastle RGC
Manchester
London St Georges
London GOSH
Liverpool
Glasgow
Cambridge
Birmingham RGC
Belfast
Sheffield
London GSTT
Edinburgh
Aberdeen
0
0.5
1
1.5
2
2.5
3
3.5
4
4.5
Number of tests
98
www.ukgtn.nhs.uk
99
3.24 Respiratory Medicine & Cystic Fibrosis
3.24 Respiratory Medicine & Cystic Fibrosis
Joint Clinical Genetics/Respiratory Medicine Clinics
Joint Clinics
Chronic respiratory management
Cardiff
Respiratory tests offered and laboratory providers
Lead Specialty
No. clinics per
year
RESPIRATORY MEDICINE
Occasional
Laboratories offering test for respiratory disorders & cystic fibrosis
Adult Respiratory Medicine
Edinburgh
Sheffield
London GSTT
Leeds
Cambridge
Salisbury
Birmingham RGC
Wales Cardiff
Oxford RGC
Nottingham
Newcastle RGC
Manchester
London KGC
London GOSH
Liverpool
Glasgow
Exeter
Bristol
Aberdeen
Cystic Fibrosis
Primary Ciliary Dyskinesia 18 Gene
Panel
Primary Pulmonary Hypertension
(Familial)
Telangiectasia, Hereditary
Hemorrhagic, Of Rendu, Osler, And
Weber
Telangiectasia, Hereditary
Hemorrhagic, Type 2
Paediatric
Respiratory Medicine
Ab
er
d
Bi ee
rm n
i
Br ngh
ist am
o
RG
Ca l
C
m
br
Ed id
in ge
b
Ex urg
et h
e
Gl r
as
g
Le ow
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n G
nd O
o S
Lo n K H
nd G
o C
M nG
an S
c T
Ne hes T
wc ter
No ast
tti le R
n
Ox gh GC
fo am
rd
Sa R
l is G C
b
Sh u r y
effi
W e ld
ale
sC
ar
di
ff
0
1
2
3
4
Central Hypoventilation Syndrome,
Congenital
Cystic Fibrosis
Surfactant Metabolism Dysfunction,
Pulmonary, 3
5
Number of tests
100
Adult Respiratory Medicine
Ab
er
d
Bi ee
rm n
i
Br ngh
ist am
o
RG
Ca l
C
m
br
Ed id
g
in
b e
Ex urg
et h
e
Gl r
as
g
Le ow
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n G
nd O
o S
Lo n K H
nd G
o C
M nG
an S
c T
Ne hes T
wc ter
No ast
tti le R
n
Ox gh GC
fo am
r
Sa d R
l is G C
bu
Sh r y
effi
W e ld
ale
sC
ar
di
ff
Adult
www.ukgtn.nhs.uk
101
3.25 Rheumatology
3.25 Rheumatology
Joint Clinical Genetics/Rheumatology Clinics
Rheumatology tests offered and laboratory providers
No. clinics per
year
Lead Specialty
EDS (NCG service)
Sheffield
ACU
6
Ehlers-Danlos
Birmingham
PAEDIATRIC
RHEUMATOLOGY
2
Rheumatology/EDS
Park)
CLINICAL GENETICS
4
Oxford
RHEUMATOLOGY
Skeletal Dysplasia
Adult
Rheumatology
Ca
m
b
O x r id
fo ge
r
Ox d H
fo ae
m
r
Sh d R
effi G C
el
d
Joint Clinics
10
Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant
Hyperuricemic Nephropathy, Juvenile, and Medullary Cystic
Kidney Disease, Familial
Laboratories offering test for rheumatology
Rheumatology
Sheffield
Oxford RGC
Oxford Haem
Cambridge
0
1
2
3
4
5
Number of tests
102
www.ukgtn.nhs.uk
103
3.26 Surgical Dentistry (paediatric)
3.27 Urology
Laboratories offering tests for urology
Laboratories offering tests for paediatric surgical dentistry
Urology
Paediatric Surgical Dentistry
London UCLH Biochem
Leeds
Wales Cardiff
Bristol
Cambridge
London GSTT
Salisbury
Wales Porphyria
London St Georges
London St Georges
Wales Cardiff
Sheffield
Oxford RGC
Glasgow
Nottingham
0
1
2
3
4
Newcastle RGC
5
Number of tests
Manchester
London KGC
London GOSH
Liverpool
Glasgow
Paediatric surgical dentistry tests offered and laboratory providers
Exeter
Edinburgh
Cambridge
Birmingham RGC
Belfast
Ca
m
b
Gl rid
as ge
g
Lo ow
nd
o
W nS
ale t G
W s Ca eor
ale rd ge
s P iff s
or
ph
yr
ia
0
1
2
3
4
Number of tests
Ectodermal Dysplasia, Hypohidrotic, With Immune
Deficiency
EEC Syndrome 3 and Related Syndromes
Urology tests offered and laboratory providers
Incontinentia Pigmenti
Odontoonychodermal Dysplasia And Related
Phenotypes
Urology
Ab
er
d
Be ee
lfa n
Bi st
rm
i
Br ngh
ist am
ol
RG
Ca
C
m
br
Ed id
in ge
b
Ex urg
et h
e
Gl r
as
g
Le ow
ed
s
Liv
er
p
Lo oo
nd l
o
Lo n G
nd O
o n SH
Lo
nd KG
o C
Lo n G
nd S
o T
Lo n S T
nd t G
o
M n U eor
an C ge
L
c
s
Ne hes H B
wc ter ioc
he
No ast
m
tti le R
ng G
Ox h C
fo am
r
Sa d R
lis G C
bu
Sh r y
effi
W e ld
ale
sC
ar
di
ff
Paediatric Surgical Dentistry
Aberdeen
Cystic fibrosis
Cystinuria
Male Infertility Due To Y
Chromosome Deletions
104
www.ukgtn.nhs.uk
105
Appendix 1
Laboratory contact details
Aberdeen
Aberdeen Medical Genetics Laboratory
NHS Grampian
Medical Genetics Laboratory
Polwarth Building Medical School
Foresthill
Aberdeen
AB25 2ZD
Molecular Genetics
01224 553893
01224 551259
Cytogenetics
01224 553820
01224 551259
Kevin Kelly (Head of
Molecular Genetics)
kfkelly@nhs.net
David Stevenson (Head of david.stevenson2@nhs.net
Cytogenetics)
01224 553888
01224 550931
Belfast
Northern Ireland Regional Genetics Labs
Belfast Health and Social Care Trust
Northern Ireland Regional Genetics Centre
Floor A
Belfast City Hospital
51 Lisburn Road
Belfast
BT9 7AB
Laboratory Secretary
GeneticsLabs@belfasttrust.hscni.net
028 95048281 or 028 95047844
Birmingham IMD
West Midlands Inherited Metabolic Disorders
Birmingham Children’s Hospital NHS Foundation Trust
Dept of Clinical Chemistry
Steelhouse Lane
Birmingham
B4 6NH
Duty Molecular Biologist
Biochemical.Genetics@bch.nhs.uk
0121 333 9877
Birmingham RGC
West Midlands Regional Genetics Laboratory
Birmingham Women’s Health Care NHS Trust
Edgbaston
Birmingham
B15 2TG
Molecular Genetics and Cytogenetics genetics.lab@bwnft.nhs.uk
106
www.ukgtn.nhs.uk
0121 627 2710
107
Appendix 1
Appendix 1
Bristol
Edinburgh
Bristol Genetics Laboratory
North Bristol NHS Trust
Pathology Sciences
Southmead Hospital
Westbury-on-Trym
Bristol
BS10 5NB
South East Scotland Genetic Laboratory Services
NHS Lothian
David Brock Building
Western General Hospital
Crewe Rd
Edinburgh
EH4 2XU
Bristol Genetics Laboratory
genetics@nbt.nhs.uk
0117 323 5569, 0117 323 5570 or 0117
323 5571
Molecular Genetics
edinburgh.dna@luht.scot.nhs.uk
0131 537 1116
Eddy Maher (Head of Cytogenetics)
eddy.maher@luht.scot.nhs.uk
0131 537 2990
Cambridge
Exeter
East Anglian Medical Genetics Service
Cambridge University Hospitals NHS
Genetics Laboratories Box 143
Level 6, Addenbrooke’s Treatment Centre
Cambridge University Hospitals
Hills Road
Cambridge
CB2 0QQ
Exeter Molecular Genetics Laboratory
Royal Devon and Exeter Foundation Trust
Molecular Genetics Department
RILD Level 3
Royal Devon & Exeter NHS Foundation Trust
Barrack Road
Exeter
EX2 5DW
Genetics Laboratory
geneticslaboratories@nhs.net
01223 348866
Stephen Abbs Director of Genetics
Laboratory
stephen.abbs@addenbrookes.nhs.uk 01223 348866
Ingrid Simonic Deputy Director of
the Genetics Laboratories (Head of
Cytogenetics)
ingrid.simonic@addenbrookes.nhs.uk 01223 348713
Molecular Genetics Admin
Glasgow
West of Scotland Genetic Services
NHS Greater Glasgow & Clyde
Laboratory Genetics
West of Scotland Genetic Services
Level 2, Laboratory Medicine
Southern General Hospital
1345 Govan Road
Glasgow
G51 4TF
Dundee
Dundee Molecular Genetics Laboratory
NHS Tayside
East of Scotland Regional Genetic Service
Laboratory Genetics, Level 6
Ninewells Hospital and Medical School
Dundee
DD1 9SY
Molecular Genetics
Tay-UHB.moleculargenetics@nhs.net 01382 740534
Cytogenetics
Tay-UHB.eofscytogenetics@nhs.net
108
rde-tr.moleculargeneticsadmin@nhs.net 01392 40 8229
Molecular
geneticlabs@ggc.scot.nhs.uk
0141 354 9330
Cytogenetics
geneticlabs@ggc.scot.nhs.uk
0141 354 9265
01382 496272
www.ukgtn.nhs.uk
109
Appendix 1
Appendix 1
Leeds
London GOSH
Yorkshire Regional Genetics Service
Leeds Genetics Laboratory
Ashley Wing
St James’s University Hospital
Leeds
LS9 7TF
North East Thames Regional Genetics Laboratory Service
North East Thames Regional Molecular Genetics Laboratory
Great Ormond Street Hospital NHS Trust
Level 6 Barclay House
37 Queen Square
London
WC1N 3BH
Molecular Genetics
leedsth-tr.dna@nhs.net
0113 2065205
Ruth Charlton (Head of Molecular ruth.charlton1@nhs.net
Genetics)
Paul Roberts (Head of cytogenetics paul.roberts16@nhs.net
and molecular oncology)
0113 2065817
Merseyside and Cheshire Regional Molecular Genetics Laboratory
Liverpool Women’s NHS Foundation Trust
Crown Street
Liverpool
L8 7SS
dna.liverpool@nhs.net
Cyto general enquiries
cytogenetics@gosh.nhs.uk
0207 7829 8870
Jonathan Waters
(Head of cytogenetics)
020 7762 6918
0207 762 6878
North West Thames Regional Genetics Laboratories
Level 8V
Northwick Park Hospital
Watford Road
Harrow Middlesex
London
HA1 3UJ
0151 702 4228
0151 702 4219
Angela Douglas (Head of
Cytogenetics)
0151 702 4229
Genetics Laboratory
lnwh-tr.nwtrgsdnalab@nhs.net
020 8869 3104 / 3109 / 3180
London Rb
London ION
Retinoblastoma Genetic Screening Unit
Molecular Pathology Suite
3rd Floor, Pathology & Pharmacy Building
Barts Health NHS Trust
80 Newark Street
London
E1 2ES
London Institute of Neurology Neurogenetics Unit
Neurogenetics Unit
Institute of Neurology/National Hospital for Neurology and Neurosurgery
Queen Square
London
WC1N 3BG
General Enquiries
0207 762 6888
London KGC
Roger Mountford (Head of Molecular roger.mountford@lwh.nhs.uk
Genetics)
angela.douglas@lwh.nhs.uk
cmg@gosh.nhs.uk
Lucy Jenkins (Head of Molecular lucy.jenkins@gosh.nhs.uk
Genetics)
Liverpool
Molecular Genetics
General Enquiries
ucl-tr.NHNNgenetics@nhs.net
0203 448 4250
London King’s Haem
General enquiries
retinoblastoma@bartshealth.nhs.uk
020 3246 0265
Dr Zerrin Onadim
zerrin.onadim@bartshealth.nhs.uk
020 3246 0265
Department of Haematological Medicine
Molecular Pathology
1st Floor Cheyne Wing
King’s College Hospital
Denmark Hill
London
SE5 9RS
General Enquiries
110
kch-tr.PND@nhs.net
020 3299 2265
www.ukgtn.nhs.uk
111
Appendix 1
Appendix 1
London GSTT
London UCLH Haem
South East Thames Regional Genetics Laboratory
DNA Laboratory
5th Floor, Tower Wing
Guy’s Hospital
Great Maze Pond
London
SE1 9RT
Regional Haemoglobinopathy Genetic Centre
Haemoglobinopathy Genetics Centre
Molecular Genetics Laboratory
University College London Hospitals NHS Foundation Trust (HSL)
307 Euston Road
London
NW1 3AD
Elaine White (Office Manager)
Elaine.White@gsts.com
0207 1882 582 or 0207 1882 1696
Molecular Genetics David Ellis
(Operations Lead – Principle Clinical
Scientist)
david.ellis@viapath.co.uk
0207 1882 582 or 0207 1882 1696
Cytogenetics Richard Hall (Genetics
Service Delivery Manager)
richard.hall@viapath.co.uk
0207 188 1709
Biochemistry Marie Jackson (Head of marie.jackson@gsts.com
Biochemical Genetics)
The South West Thames Regional Genetics Service
SW Thames Regional Genetics Laboratory
St George’s University Of London
Cranmer Terrace
London
SW17 0RE
0208 725 5332
Cytogenetics
swtrgl@stgeorges.nhs.uk
0208 725 5332
General Enquiries
haemgen@uclh.nhs.uk
020 3447 9458
Molecular Genetics
lorraine.gaunt@cmft.nhs.uk
+44 (0) 161 276 6122
Cytogenetics
lorraine.gaunt@cmft.nhs.uk
+44 (0) 161 276 6553
Biochemical Genetics
Mick.Henderson@cmft.nhs.uk
+44 (0) 161 701 2143 / 2137
Newcastle Mito
Newcastle Mitochondrial Diagnostic Laboratory
Wellcome Trust Centre for Mitochondrial Research
4th Floor Cookson Building
The Medical School Newcastle University
Framlington Place
Newcastle
NE2 4HH
London UCLH Biochem
London UCLH Hospitals Clinical Biochemistry
Clinical Biochemistry
UCL Hospitals 3rd Floor
60 Whitfield St
London
W1T 4EU
Professor Robert Taylor
Dr G Rumsby (Head of Laboratory)
gill.rumsby@uclh.nhs.uk
020 344 72955
Mr Oliver Clifford-Mobley
oliver.clifford-mobley@uclh.nhs.uk
020 344 72961
112
020 3447 9458
Manchester Regional Genetic Laboratory Services
Genomic Diagnostics Laboratory
The Manchester Centre for Genomic Medicine
6th Floor, St Mary’s Hospital
Central Manchester University Hospitals NHS Foundation Trust
Oxford Road
Manchester
M13 9WL
London St Georges
swtrgl@stgeorges.nhs.uk
mary.petrou@uclh.nhs.uk
Manchester
0207 188 2591
Molecular Genetics
Dr Mary Petrou
www.ukgtn.nhs.uk
robert.taylor5@nuth.nhs.uk
0191 282 4375
113
Appendix 1
Appendix 1
Newcastle RGC
Salisbury
Northern Genetics Service
Molecular Genetics Laboratory
Institute of Genetic Medicine
International Centre for Life
Central Parkway
Newcastle
NE1 3BZ
Wessex Regional Genetics Laboratory
Salisbury NHS Foundation Trust
Salisbury District Hospital
Salisbury
SP2 8BJ
Wiltshire
Dr David Bourn (Head of Molecular david.bourn@nuth.nhs.uk
Genetics)
0191 241 8819
Laboratory Secretary
0191 241 8754
Service Manager
0191 241 8775
General Enquiries
Sheffield Diagnostic Genetics Service (SDGS)
Sheffield Children’s NHS Foundation Trust
Western Bank
Sheffield S10 2TH
East Midlands Regional Molecular Genetics Service
Centre for Medical Genetics
City Hospital Campus
Nottingham University Hospitals NHS Trust
Hucknall Road
Nottingham
NG5 1PB
NUHNT.moleculargenetics@nhs.net
Cytogenetics
General Enquiries
0115 969 1169 x 55207
0115 969 1169 ext 56617 or 0115 962
7617
0114 271 7014
Business michaela.john@wales.nhs.uk
029 2074 2641
All Wales Medical Genetics Laboratory
Institute of Medical Genetics
University Hospital of Wales
Heath Park
Cardiff
CF14 4XW
Molecular
Manager
Genetics
-
Cytogenetics
Oxford Molecular Diagnostics Centre
BRC Molecular Diagnostic Lab
Molecular Haematology
Level 4, John Radcliffe Hospital
Headington
Oxford
OX3 9DU
lab.genetics@wales.nhs.uk
029 2074 2641
Wales Porphyria
(from September 2015 this service merged with the Wales RGC)
oxford.molecularhaem@nhs.net
Cardiff Porphyria Service
Department of Medical Biochemistry & Immunology
University Hospital of Wales
Heath Park
Cardiff
Cardiff
CF14 4XW
01865 572769
Oxford RGC
The Oxford Medical Genetics Laboratories
Churchill Hospital
Oxford
OX3 7LJ
Molecular Genetics
oxford.dnalab@nhs.net
01865 226001
Cytogenetics
cytogenetics@orh.nhs.uk
01865 226001
114
SDGS@sch.nhs.uk
Wales Cardiff
Oxford Haem
General enquiries
01722 429080
Sheffield
Nottingham
Molecular Genetics
shc-tr.WRGLdutyscientist@nhs.net
Porphyria
Sharon.Whatley@wales.nhs.uk
+ 44 (0) 29 2074 2811
Dr M Badminton (Porphyria Service)
mike.badminton@wales.nhs.uk
+44 (0) 29 2074 6588
Dr Carol Evans (Endocrine)
Carol.Evans9@wales.nhs.uk
+44 (0) 29 20748367
Dr Stephen Jolles (Immunology)
Stephen.Jolles@wales.nhs.uk
00 44 (0) 29 20745814
www.ukgtn.nhs.uk
115
Appendix 2
Appendix 2
Regional Genetic Centres and Services
Yorkshire Regional Genetics Service
Department of Clinical Genetics, Ward 10, 3rd Floor, Chapel Allerton Hospital Chapeltown Road, Leeds, LS7 4SA
Tel: 0113 392 4432 Fax: 0113 392 4434
Catchment areas: N Yorkshire, Bradford, W Yorshire, Leeds, Wakefield, E Riding, Grimsby, Scunthorpe
Bristol Clinical Genetics Service
St Michael’s Hospital , Southwell Street Bristol, BS2 8EG
Tel: 0117 3235570 Fax: 0117 3235572
Catchment areas: Bristol, Bath, Somerset, Gloucestershire, parts of Wiltshire
Cheshire and Merseyside Clinical Genetics Service
Department of Clinical Genetics
Liverpool Women’s NHS Foundation Trust Service Base
Royal Children’s Hospital, Alder Hey, Eaton Road, Liverpool, L12 2AP
Tel: 0151 802 5001/5002 Fax: 0151 802 5096/5095
Catchment areas: Liverpool, Wirral, Southport, St Helens & Knowsley, Warrington, Runcorn, Chester, Crewe, Isle of Man
East Anglia Regional Genetics Service
PO Box 134, Addenbrooke’s Hospital NHS Trust, Cambridge, CB2 0QQ
Tel: 01223 216446 Fax: 01223 217 054
Catchment areas: Cambridgeshire, Norfolk, Suffolk, parts of N Essex, Hertfordshire, Lincolnshire, Bedfordshire
Leicestershire Clinical Genetics Service
Department of Clinical Genetics, Leicester Royal Infirmary, Leicester, LE1 5WW
Tel: 0116 258 5736 Fax: 0116 258 6057
Catchment areas: Leicester
Manchester Regional Genetics Centre
Manchester Regional Genetics Service (incorporating metabolic genetics), Genetic Medicine, 6th Floor, St Mary’s
Hospital, CMFT, Oxford Rd, Manchester, M13 9WL.
Tel: 0161 276 6506 Fax: 0161 276 6145
Catchment areas: Greater Manchester, Lancashire, Cumbria and Macclesfield
Oxford Regional Genetics Service
The Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ
Tel: 01865 226009 or 01865 226028 Fax: 01865 223572
Catchment areas: Oxfordshire, Northamptonshire, Buckinghamshire, Berkshire, Swindon
London: N W Thames Regional Genetics Service
Kennedy Galton Centre, Level 8V Northwick Park & St Marks NHS Trust, Watford Road HARROW, Middlesex, HA1 3UJ
Tel: 020 8869 2795 Fax: 020 8869 3106
Catchment areas: Hertfordshire, Bedfordshire, Barnet, Hillingdon, Brent & Harrow, Ealing, Hammersmith, Hounslow,
Kensington, Chelsea, Westminster, Edgware
London - S E Thames Regional Genetics Service
The Genetics Department, 7th Floor, New Guy’s House, Guy’s Hospital, London, SE1 9RT
Tel: 020 7188 1364 Fax: 020 7188 1369
Catchment areas: Kent, E Sussex, Bromley, Greenwich, Bexley, Lambeth, Southwark, Lewisham
London - S W Thames Regional Genetics Service
Department of Medical Genetics, St George’s University of London, Cranmer Terrace, London, SW17 0RE
Tel: 020 8725 2038 Fax: 020 8725 3444
Catchment areas: Ashford New River, S W London, Surrey, W Sussex
Nottingham Department of Clinical Genetics
Nottingham Genetics Service, The Gables, Nottingham City Hospital NHS Trust, Hucknall Road, Nottingham, NG5 1PB
Tel: 0115 962 7728 Fax: 0115 962 8042
Catchment areas: Nottingham, N Nottinghamshire, Lincolnshire, S & N Derbyshire
Peninsula Clinical Genetics Service
Clinical Genetics Department, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter, EX1 2ED
Tel: 01392 405730/405728 Fax: 01392 405739
Catchment areas: Devon, Cornwall
Northern Region Genetics Service
Northern Genetics Service The Newcastle upon Tyne Hospitals NHS Foundation Trust Institute of Genetic Medicine
International Centre for Life Central Parkway Newcastle upon Tyne, NE1 3BZ
Tel: 0191 241 8600, Fax: 0191 241 8799
Catchment areas: Cleveland, Durham, Tyne & Wear, Northumberland, Cumbria
W Midlands Clinical Genetics Service
Clinical Genetics Unit, Birmingham Womens Hospital, Metchley Park Road, Edgbaston Birmingham, B15 2TG
Tel: 0121 6272630 Fax: 0121 6272618
Catchment areas: Staffordshire, Shropshire, Warwickshire, Birmingham, Hereford & Worcester, W Midlands
116
London: N E Thames Regional Genetics Services
Clinical Genetics Department, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London,
WC1N 3JH
Tel: 020 7762 6845/ 6831/ 6856 Fax: 020 7813 8141
Catchment areas: N London, E London and Essex
Sheffield Clinical Genetics Service
Department of Clinical Genetics, OPD2, Northern General Hospital, Herries Road, Sheffield, S5 7AU
Tel: 0114 271 7034 Fax: 0114 273 7467
Catchment areas: Doncaster, Worksop, Barnsley, Chesterfield, Rotherham, Sheffield, Buxton
Wessex Clinical Genetics Service
Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA
Tel: 023 8120 6170 Fax: 023 8120 4346
Catchment areas: Hampshire, Dorset, Isle of Wight, Salisbury
www.ukgtn.nhs.uk
117
Appendix 2
Acknowledgements
Authors
N Ireland Regional Genetic Service
Department of Medical Genetics, A Floor, Belfast City Hospital, Lisburn Road, Belfast, BT9 7AB
Tel: 028 9504 8022 Fax: 028 9023 6911
Catchment areas: Northern Ireland
Becky Treacy
Dr Jo Whittaker
Dr Shehla Mohammed
Jane Deller
E Scotland Human Genetic Laboratories
Human Genetics Unit, Level 6, Ninewells Hospital and Medical School, Dundee, DD1 9SY
Tel: 01382 632035 Fax: 01382 496382
Catchment areas: Dundee, Perth, N Fife, Angus, Perthshire
Scientific Project Lead, UKGTN
Scientific Development Advisor, UKGTN
Clinical Advisor, UKGTN
Programme Manager, UKGTN
Acknowledgements
N Scotland Clinical Genetics Service
Department of Medical Genetics, Ashgrove House, Foresterhill, Aberdeen, AB25 2ZA
Tel: 01224 552120 Fax: 01224 559390
Catchment areas: Grampian, Highland, Orkney & Shetland, Western Isles
The UKGTN would like to thank the Heads of Laboratories and Cinical Leads at Regional Genetics Centres for providing
and reviewing data for the guide.
S E Scotland Regional Genetics Centre
Department of Clinical Genetics, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU
Tel: 0131 537 1116 Fax: 0131 537 1153
Catchment areas: Lothian, Fife, Borders
W Scotland Regional Genetics Service
West of Scotland Clinical Genetic Service, Level 2A Laboratory Medicine, Southern General Hospital, 1345 Govan Road,
Glasgow, G51 4TF
Tel 0141 354 9200/9201 Fax 0141 232 7986
Catchment areas: Greater Glasgow, Argyll & Clyde, Ayrshire & Arran, Forth Valley, Lanarkshire, Dumfries & Galloway
All-Wales Medical Genetics Service
Institute of Medical Genetics,
University Hospital of Wales, Heath Park, Cardiff, CF14 4XW Wales
Tel: 029 2074 2577
Catchment areas: all of Wales
The PHG Foundation was
commissioned to produce this report.
118
www.ukgtn.nhs.uk
119
Appendix 1
www.ukgtn.nhs.uk
UK Genetic Testing Network (UKGTN)
c/o South East CSU
15 Marylebone Rd
London
NW1 5JD
Tel
Fax
020 3350 4999
020 3350 4458

UKGTN Guide to Specialised Services for Rare Genetic Disorders

Transcription

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