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 across 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 to our allocated provider according to NHS England’s instructions.

WMRGL Metabolic services

• R98 Likely inborn error of metabolism - targered testing not possible 
• R270 Smith-Lemli-Opitz syndrome
• R272 Gaucher Disease
• R273 Glycogen storage disease V
• R274 Glycogen storage disease
• R276 Lysosomal Storage Disorder
• R280 Krabbe disease-GALC deficiency
• R281 Krabbe disease-Saposin A deficiency
• R282 Niemann Pick disease type A or B
• R287 Mucopolysaccharidosis type IVA
• R289 Mucolipidosis II and III Alpha/Beta
• R290 Mucopolysaccharidosis VI
• R335 Fabry disease
• R380 Niemann Pick type C

_{Updated 26/04/2022}