Metabolic Genomic testing
The complete list of the Clinical Indications for metabolic-associated rare disorders can be found in the National Genomics Test Directory. Testing is provided by three of the seven Genomic Laboratory Hubs in England. WMRGL provides local, regional and national testing for the clinical indications listed below.
All patients’ samples should be sent to WMRGL; DNA will be extracted and testing will either take place in WMRGL or DNA will forwarded for Whole Genome Sequencing or to our allocated provider according to NHS England’s instructions.
Please check the Test Directory eligibility criteria before you request any of these tests.
Referral forms can be found here and for turnaround times please check here
If further information is needed please contact: bwc.metabolicgenomics@nhs.net
Test code |
Clinical Indication |
Genes in the panel/link to PanelApp |
---|---|---|
R98 |
Likely inborn error of metabolism- by Whole Genome Sequencing |
https://nhsgms-panelapp.genomicsengland.co.uk/panels/467/v3.0 |
|
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R274 |
Glycogen storage disease –by exome |
https://nhsgms-panelapp.genomicsengland.co.uk/panels/528/v1.2 |
R276 |
Lysosomal storage disorder –be exome |
https://nhsgms-panelapp.genomicsengland.co.uk/panels/529/v2.0 |
R419 |
Acute Rhabdomyolysis |
https://nhsgms-panelapp.genomicsengland.co.uk/panels/1141/v1.0 |
R270 |
Smith-Lemli-Opitz syndrome |
DHCR7 sequencing and MLPA |
R272 |
Gaucher Disease |
GBA sequencing |
R273 |
Glycogen storage disorder V |
PYGM sequencing |
R280 |
Krabbe disease-GALC deficiency |
GALC sequencing and MLPA |
R281 |
Krabbe disease-Saposin A deficiency |
PSAP sequencing |
R282 |
Niemann Pick disease type A or B |
SMPD1 sequencing |
R287 |
Mucopolysaccharidosis type IVA |
GALNS sequencing |
R289 |
Mucolipidosis II and III Alpha/Beta |
GNPTAB sequencing |
R290 |
Mucopolysaccharidosis VI |
ARSB sequencing |
R335 |
Fabry disease |
GLA sequencing and MLPA |
R380 |
Niemann Pick type C |
NPC1, NPC2 sequencing and MLPA |
Updated 06/12/2022