Invitae Pulmonary Arterial Hypertension Panel
Use
This test is designed for individuals with a clinical diagnosis of pulmonary arterial hypertension (PAH) to help establish or confirm a diagnosis, clarify risks, or guide medical management. It can also benefit asymptomatic individuals in a family with a known PAH pathogenic variant to avoid medications that may trigger symptoms. The test covers genes definitively associated with PAH, and includes genetic analysis for genes linked with both familial and simplex PAH.
Special Instructions
Individuals with symptoms of PAH may benefit from genetic testing. It is important to consult clinical resources for detailed analysis regions or types of variants covered or excluded by this test.
Limitations
Sequence changes in promoter regions, non-coding exons, and other non-coding regions are not covered unless explicitly stated. Structural rearrangements, certain complex sequence architectures, and some single-exon copy number events may not be detected. The DNA analyzed may not represent the patient's constitutional genome in rare cases, such as recent blood transfusion or bone marrow transplant.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)