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 your 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

**WMRGL Metabolic services**
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
R98 is routinely provided via Whole Genome Sequencing. For clinically URGENT cases fulfilling the eligibility criteria as shown in the Test Directory, WMRGL offers a National service with a fast turnaround time of 3 weeks, for certain subsets of genes associated with specific phenotypes
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