Specialised Services

Genomic Laboratory Hub Services

Specialist genomic tests are specialist tests that will be delivered only by the Genomic Laboratory Hubs that have been appointed as a Specialist Test Provider due to the fact that they have the required quality and expertise.

The North East and Yorkshire GLH have been appointed as specialist test providers for the following services and regions.

Specialised Services

Areas covered by NE&Y GLH
North East and Yorkshire
North West
East Midlands and East of England

Tests offered
R171 Cholestasis
R172 Wilson Disease
R173 Polycystic Liver Disease
R175 Pancreatitis
R176 Gilbert Syndrome
R177 Hirschsprung disease – familial

For detailed information about testing criteria and who can request the test consult the National Genomic Test Directory
National Genomic Test Directories

Lead Clinical Scientist
m.durkie@nhs.net

Useful Clinical Links
www.newcastle-hospitals.org.uk
www.britishlivertrust.org.uk

Genome Rare Disease Advisory Board (GRDAB)
Complex results may require further clinical input before a report is issued and referring clinicians may be invited to a virtual MDT to discuss the case and results in more detail

Areas covered by NE&Y GLH
North East and Yorkshire

Tests offered
R361 Haemoglobinopathy trait or carrier testing
R362 Carrier testing for sickle cell disease
R90 Bleeding and platelet disorders
R93 Thalassaemia and other haemoglobinopathies
R94 HbSS sickle cell anaemia
R372 Newborn screening for sickle cell disease in a transfused baby
R95 Iron overload – hereditary haemochromatosis testing
R96 Iron metabolism disorders – NOT common HFE mutations
R97 Thrombophilia with a likely monogenic cause
R112 Factor II deficiency
R115 Factor V deficiency
R116 Factor VII deficiency
R117 Factor VIII deficiency
R118 Factor IX deficiency
R119 Factor X deficiency
R120 Factor XI deficiency
R121 von Willebrand disease
R122 Factor XIII deficiency
R123 Combined vitamin K-dependent clotting factor deficiency
R124 Combined factor V and VIII deficiency
R92 Rare anaemia
R91 Cytopenia – NOT Fanconi anaemia
R258 Cytopenia – Fanconi breakage testing indicated
R259 Nijmegen breakage syndrome
R260 Fanconi anaeamia or Bloom syndrome – chromosome breakage testing
R313 Neutropaenia consistent with ELANE mutations
R338 Monitoring for G(M)CSF escape mutations
R347 Inherited predisposition to acute myeloid leukaemia (AML)
R366 Inherited susceptibility to acute lymphoblastoid leukaemia (ALL)

For detailed information about testing criteria and who can request the test consult the National Genomic Test Directory
National Genomic Test Directories

Lead Clinical Scientist
mandy.nesbitt@nhs.net

Genome Rare Disease Advisory Board (GRDAB)
Complex results may require further clinical input before a report is issued and referring clinicians may be invited to a virtual MDT to discuss the case and results in more detail

Areas covered by NE&Y GLH
North East and Yorkshire
North West
East Midlands and East of England

Tests offered
R213 PTEN hamartoma Tumour Syndrome
R216 Li Fraumeni Syndrome
R220 Wilms tumour with features suggestive of predisposition
R224 Inherited Renal Cancer
R225 Von Hippel Lindau syndrome
R254 Familial Melanoma
R363 Inherited predisposition to GIST
R365 Fumarate hydratase-related tumour syndromes

For detailed information about testing criteria and who can request the test consult the National Genomic Test Directory

The Yorkshire and North East and the North West GLH deliver this service jointly. Please send all referrals through your local GLH service who will distribute samples to the appropriate location for testing.

National Genomic Test Directories

Lead Clinical Scientist
rachell.robinson@nhs.net

Useful Clinical Links
www.cancerresearchuk.org

Genome Rare Disease Advisory Board (GRDAB)
Complex results may require further clinical input before a report is issued and referring clinicians may be invited to a virtual MDT to discuss the case and results in more detail.

Areas covered by NE&Y GLH
North East and Yorkshire
North West
East Midlands and East of England

Tests offered
R64 MELAS or MIDD
R299 Possible mitochondrial disorder – mitochondrial DNA rearrangement
R300 Possible mitochondrial disorder – whole mitochondrial genome
R301 Possible mitochondrial disorder – mitochondrial DNA depletion
R315 POLG-related disorder
R316 Pyruvate dehydrogenase deficiency
R317 Mitochondrial liver disease, including transient infantile liver failure
R350 MERFF syndrome
R351 NARP syndrome or maternally inherited Leigh syndrome
R352 Mitochondrial DNA maintenance disorder
R353 Mitochondrial disorder with complex I deficiency
R354 Mitochondrial disorder with complex II deficiency
R355 Mitochondrial disorder with complex III deficiency
R356 Mitochondrial disorder with complex IV deficiency
R357 Mitochondrial disorder with complex V deficiency
R63 Possible mitochondrial disorder – nuclear genes
R394 Mitochondrial neurogastrointestinal encephalopathy
R395 Thiamine metabolism dysfunction syndrome 2
R396 Mitochondrial complex V deficiency, TMEM70 type
R397 Maternally inherited cardiomyopathy

For detailed information about testing criteria and who can request the test consult the National Genomic Test Directory
National Genomic Test Directories

Lead Clinical Scientist
emma.watson33@nhs.net

Useful Clinical Links
www.newcastle-mitochondria.com
www.mitochondrialdisease.nhs.uk

Genome Rare Disease Advisory Board (GRDAB)
Complex results may require further clinical input before a report is issued and referring clinicians may be invited to a virtual MDT to discuss the case and results in more detail

Areas covered by NE&Y GLH
North East and Yorkshire
North West
East Midlands and East of England

Tests Offered
R52 Short stature – SHOX deficiency
R104 Skeletal dysplasia
R390 Multiple exostoses
R340 Amelogenesis imperfecta – National service
R101 Ehlers Danlos syndrome with a likely monogenic cause – National service
R102 Osteogenesis imperfecta – National service

For detailed information about testing criteria and who can request the test consult the National Genomic Test Directory
National Genomic Test Directories

Lead Clinical Scientist
duncan.baker@nhs.net

Useful Clinical Links
www.sheffieldchildrens.nhs.uk/services/clinical-genetics/ehlers-danlos-syndrome
www.sheffieldchildrens.nhs.uk/services/metabolic-bone-disease

Genome Rare Disease Advisory Board (GRDAB)
Complex results may require further clinical input before a report is issued and referring clinicians may be invited to a virtual MDT to discuss the case and results in more detail.

Areas covered by NE&Y GLH
North East and Yorkshire
North West

Tests Offered
R54 Hereditary ataxia with onset in adulthood (NE&Y only)
R55 Hereditary ataxia with onset in childhood
R56 Adult onset dystonia, chorea or related movement disorder (NE&Y only)
R57 Childhood onset dystonia, chorea or related movement disorder (NE&Y only)
R58 Adult onset neurodegenerative disorder (NE&Y only)
R59 Early onset or syndromic epilepsy (NE&Y only)
R60 Adult onset hereditary spastic paraplegia (NE&Y only)
R61 childhood onset hereditary spastic paraplegia (NE&Y only)
R62 Adult onset leukodystrophy (NE&Y only)
R66 Paroxysmal central nervous system disorders
R71 Spinal muscular atrophy type 1 rare mutations
R73 Duchenne or Becker muscular dystrophy (NE&Y only)
R78 Hereditary neuropathy or pain disorder – NOT PMP22copy number (NE&Y only)
R82 Limb Girdle Muscular Dystrophy – National service
R371 Malignant hyperthermia – National Service
R83 Arthrogryposis (NE&Y only)
R381 other rare neuromuscular disorders (NE&Y only)
R84 Cerebellar anomalies
R85 Holoprosencephaly – NOT chromosomal (NE&Y only)
R86 Hydrocephalus (NE&Y only)
R87 Cerebral malformation (NE&Y only)
R88 Severe microcephaly (NE&Y only)
R109 Childhood onset leukodystrophy (NE&Y only)
R228 Tuberous sclerosis
R295 Ataxia Telangiectasia – National Service
R336 Cerebral vascular malformations – National Service
R337 CADASIL (NE&Y only)

For detailed information about testing criteria and who can request the test consult the National Genomic Test Directory
National Genomic Test Directories

Lead Clinical Scientist
nick.beauchamp@nhs.net
LGMD – judith.hudson@nhs.net
MH – rachell.robinson@nhs.net

Useful Clinical Links
www.leedsth.nhs.uk/a-z-of-services/malignant-hyperthermia
www.atsociety.org.uk

Genome Rare Disease Advisory Board (GRDAB)
Complex results may require further clinical input before a report is issued and referring clinicians may be invited to a virtual MDT to discuss the case and results in more detail.

Areas covered by NE&Y GLH
National

Lead Clinical Scientist
Valerie.Wilson@nuth.nhs.uk

Tests Offered
R197 Membranoproliferative glomerulonephritis including C3 glomerulonephropathy
R201 Atypical haemolytic uraemic syndrome

For detailed information about testing criteria and who can request the test consult the National Genomic Test Directory
National Genomic Test Directories

Useful Clinical Links
www.atypicalhus.co.uk

Genome Rare Disease Advisory Board (GRDAB)
Complex results may require further clinical input before a report is issued and referring clinicians may be invited to a virtual MDT to discuss the case and results in more detail

Areas covered by NE&Y GLH
North East and Yorkshire
North West
East Midlands and East of England

Tests offered
R139 Laterality disorders and isomerism
R186 Hereditary haemorrhagic telangiectasia
R188 Pulmonary arterial hypertension
R189 Respiratory ciliopathies including non-CF bronchiectasis
R190 Pneumothorax- familial
R191 Alpha-1-antitrypsin deficiency
R192 Surfactant deficiency

For detailed information about testing criteria and who can request the test consult the National Genomic Test Directory
National Genomic Test Directories

Lead Clinical Scientist
duncan.baker@nhs.net

Useful Clinical Links
www.blf.org.uk

Genome Rare Disease Advisory Board (GRDAB)
Complex results may require further clinical input before a report is issued and referring clinicians may be invited to a virtual MDT to discuss the case and results in more detail

If you require access to testing through any one of the specialised services please continue to follow local process and refer to your local GLH service.

Highly Specialised Services

“The partnership between Sheffield Teaching Hospitals, Leeds Hospitals, Sheffield Children’s Hospital and Newcastle Hospitals in the form of the new Genomic laboratory is another important step forward for our local population in terms of access to specialist genetic testing and interpretation.”

Dr David Throssell, Medical Director
Sheffield Teaching Hospitals
NHS Foundation Trust

Genomic Multi-Disciplinary Team Meetings

In order to support the interpretation of genomic data and its integration within the clinical Multi-Disciplinary Team process a series of genomic advisory boards have been established.

These are multi-disciplinary teams who analyse the more complex genomic results which arise from testing for larger numbers of gene abnormalities.

GMT Meetings

National Genomic Test Directory

The 2020/2021 National Genomic Test Directory for rare and inherited disorders and cancer.

View Directory
Genomic Laboratory Hub Services