Pulmonary hypertension 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 edema. Pulmonary hypertension can also be a finding in patients with hereditary hemorrhagic telangiectasia or alveolar capillary dysplasias. 

read more

Tests Available

By gene: CAV1
Sanger Sequencing
Test Code: 2110
Deletion / Duplication
Test Code: 2111
NGS/Del Dup Comprehensive
Test Code: 2112

Related Panels
Pulmonary hypertension NGS panel (9 genes)
NGS $1,220
Del Dup $990
Comp $1,595

Test Details

Technical Information
Disease Groups: 
Cardiovascular Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 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