Specialist Laboratory Services
Specialist genomic tests are specialist tests that will only be delivered by the Genomic Laboratory Hubs (GLH) 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:
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.
Familial targeted testing, with the exception of prenatal testing, will be carried out by the specialist providers. The home laboratory will liaise with the specialist provider to ensure appropriate controls are available. Targeted prenatal testing will become the responsibility of the local laboratory in order to keep turnaround times to a minimum and facilitate close communication with fetal medicine.
Specialised Services
Gastrohepatology
Areas covered by NE&Y GLH
North East & Yorkshire
North West
East Midlands & 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
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
Haematology
Areas covered by NE&Y GLH
North East & 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
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
Inherited Cancer - Specialist
Areas covered by NE&Y GLH
North East & Yorkshire
North West
East Midlands & 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
Useful Clinical Links
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.
Mitochondrial
Areas covered by NE&Y GLH
North East & Yorkshire
North West
East Midlands & East of England
Tests offered
R299 Possible mitochondrial disorder – mitochondrial DNA rearrangement
R300 Possible mitochondrial disorder – whole mitochondrial genome
R301 Possible mitochondrial disorder – mitochondrial DNA depletion
R315 POLG-related disorderR316 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
R394 Mitochondrial neurogastrointestinal encephalopathy
R395 Thiamine metabolism dysfunction syndrome 2
R396 Mitochondrial complex V deficiency, TMEM70 type
R397 Maternally inherited cardiomyopathy
R42 Leber Hereditary optic neuropathy
R63 Possible mitochondrial disorder – nuclear genes
R64 MELAS or MIDD
R240 Diagnostic testing
R242 Predictive testing
R244 Carrier testing
R246 Carrier testing at population risk for partners of known carriers
R296 RNA analysis of variants
R370 Validation test
R375 Family follow-up testing to aid variant interpretation
R387 Reanalysis of existing data
R442 Variant re-interpretation
R443 Confirmation test
R448 Prenatal testing
For detailed information about testing criteria and who can request the test consult the National Genomic Test Directory
In addition to the above testing, the laboratory offers histochemical, immunohistochemical and respiratory chain enzyme analysis of patient biopsy samples. The appropriate sample requirements for testing are detailed within the user manual (see link below).
National Genomic Test Directories
Genomic Service Lead
Dr Charlotte Alston ([email protected])
Useful Laboratory Links
Generic email address (all enquiries/feedback) [email protected]
Newcastle Mitochondrial Diagnostic Service referral form
Useful Clinical Links
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.
Musculoskeletal
Areas covered by NE&Y GLH
North East & Yorkshire
North West
East Midlands & 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
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.
Neurology
Areas covered by NE&Y GLH
North East & 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 anomaliesR85 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
[email protected]
LGMD – [email protected]
MH – [email protected]
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.
Renal - Specialist
Areas covered by NE&Y GLH
National
Lead Clinical Scientist
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
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.
Respiratory
Areas covered by NE&Y GLH
North East & Yorkshire
North West
East Midlands & 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
Useful Clinical Links
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.
The remaining specialist services will be led by GLHs outside our region.
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.
Endocrinology - Multiple GLHs
Endocrinology – Multiple GLHs
Renal - Multiple GLHs
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.
Familial targeted testing, with the exception of prenatal testing, will be carried out by the specialist providers. The home laboratory will liaise with the specialist provider to ensure appropriate controls are available.Targeted prenatal testing will become the responsibility of the local laboratory in order to keep turnaround times to a minimum and facilitate close communication with fetal medicine.
National Genomic Test Directory
The 2020/2021 National Genomic Test Directory for rare and inherited disorders and cancer.
Read more
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.
Read more