Variant Names: 
Pulmonary arterial hypertension (PAH)

Pulmonary hypertension, primary, 1 (PPH1; MIM 178600) is an autosomal dominant pulmonary vascular disorder caused by mutations in the bone morphogenetic protein receptor, type II gene (BMPR2). PPH is characterized by the obstruction and obliteration of small pulmonary arteries, leading to pulmonary artery hypertension, right ventricular hypertrophy and right sided heart failure. Symptoms include syncope, dyspnea, fatigue, chest pain and more

Tests Available

By gene: EIF2AK4
Next Generation Sequencing
Test Code: 2051
Deletion / Duplication
Test Code: 2052
NGS/Del Dup Comprehensive
Test Code: 2053

Related Panels

Test Details

Technical Information
Disease Groups: 
Cardiovascular Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

Search Tests

TIP: enter a partial disorder name or gene to widen your search