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Heritable pulmonary arterial hypertension: gene panel

Speciality(ies) / Other Speciality(ies)

Cardiology

Nephrology, Pneumology, Internal Medicine

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

Gene Number

15

Test / Mutation List

ABCC8, BMPR2, ACVRL1, ATP13A3, CAV1, EIF2AK4, ENG, GDF2, GGCX, KCNK3, KDR, SMAD9, SOX17, TBX4, TET2

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.