Familial cases of PH are usually inherited in an autosomal dominant manner. With the identification of pathogenic variants in genes known to cause PH, what was previously thought to be idiopathic PH is now known to be genetic. A pathogenic variant in the BMPR2 gene causes ~70% of hereditary cases of pulmonary arterial hypertension (PAH) and in 10-40% of idiopathic PAH. Other genes with pathogenic variants implicated in PH include: CAV1, GDF2, RASA1, SMAD4, and SMAD9.
Heterozygous pathogenic variants in the ENG and ACVRL1 (previously known as ALK1) genes cause hereditary hemorrhagic telangiectasia (HHT). HHT is an autosomal dominant vascular disorder characterized by acquired cutaneous telangiectasias and arteriovenous malformations that can lead to the development of PAH.
- Ma and Chung. (2014). Hum Genet. [Epub ahead of print]
- Confirmation of a clinical diagnosis of pulmonary hypertension.
- Carrier testing in adults with a family history of pulmonary hypertension.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 60 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Pulmonary Hypertension: Sequencing Panel
- Comprehensive cardiomyopathy panel