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. WMGL provides local, regional and national testing for the clinical indications listed below.

All patients’ samples should be sent to WMGL; DNA will be extracted and testing will either take place in WMGL 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

Turnaround Times

For R98.3 semi-rapid inborn errors of metabolism referrals, a proforma is available linked in the table below, along with information on available R98.3 gene subsets.

If further information is needed, please contact: bwc.metabolicgenomics@nhs.net  

WMGL Metabolic Services
Test code Clinical Indication Service Information/link to PanelApp

R98.2

Likely inborn error of metabolism- by Whole Genome Sequencing

https://nhsgms-panelapp.genomicsengland.co.uk/panels/467/v7.0

Routine R98 testing is provided via Whole Genome Sequencing
R98.3 Semi Rapid Likely inborn error of metabolism - by Whole Exome Sequencing

For clinically URGENT cases fulfilling the R98.3 eligibility criteria, as detailed in the Test Directory, WMGL offers a national service with a rapid turnaround time of 21 days. This is available for subsets of genes associated with specific phenotypes, listed here: R98.3 Gene Panel Slices

R98.3 referrals must be agreed in advance with the laboratory. To confirm eligibility, please complete and email the R98.3 proforma to bwc.metabolicgenomics@nhs.net prior to sending samples: R98.3 proforma

R274

Glycogen storage disease –by exome

https://nhsgms-panelapp.genomicsengland.co.uk/panels/528/v2.0

R276

Lysosomal storage disorder –be exome

https://nhsgms-panelapp.genomicsengland.co.uk/panels/529/v3.0

R419

Acute Rhabdomyolysis — be exome

https://nhsgms-panelapp.genomicsengland.co.uk/panels/1141/v2.0 

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

R451

MCADD - diagnostic testing

ACADM sequencing

R105

MCADD - common variant newborn screening follow up

Targeted ACADM c.985A>G p.(Lys329Glu) testing

R403

MCADD - full ACADM sequencing newborn screening follow up

ACADM sequencing

R449

Glutaric Acidaemia I - diagnostic testing

GCDH sequencing

R275

Glutaric Acidaemia I - newborn screening follow up

GCDH sequencing

R450

Isovaleric acidaemia - diagnostic testing

IVD sequencing

R279

Isovaleric acidaemia - newborn screening follow up

IVD sequencing Targeted sequencing for common IVD pseudodeficiency variant

Updated 23/01/2026