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Methylmalonic aciduria and homocystinuria type cblC: MMACHC gene

Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Methodology

NGS

SNS Code

34900

OMIM
Gene Number

1

Test / Mutation List

MMACHC

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated

For other samples types, please contact the laboratory.