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  

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

Updated 06/12/2022