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Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease): ACVRL1 and ENG genes (deletion/duplication analysis)

Speciality(ies) / Other Speciality(ies)

Hematology

Methodology

MLPA

SNS Code

34900

OMIM
Gene Number

2

Test / Mutation List

ACVRL1, ENG

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.