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21-hydroxylase deficiency: CYP21A2 gene – index case

Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Methodology

Sequencing + MLPA

SNS Code

36113

OMIM
Gene Number

1

Test / Mutation List

CYP21A2

TAT

8 to 10 weeks

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.