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.