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.

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Tests Available

By gene: CAV1
Sanger Sequencing
$490
Test Code: 2110
Deletion / Duplication
$680
Test Code: 2111
Sanger/Del Dup Comprehensive
$1,070
Test Code: 2112

Related Panels
Pulmonary hypertension NGS panel (9 genes)
NGS $1,250
Del Dup $990
Comp $2,090

Test Details

Technical Information
Genes: 
CAV1
Disease Groups: 
Cardiovascular Disorders
MIM: 
615343
Billing
Price: 
$490
CPT Codes: 
81479 x 1
Ordering
SKU:
2110
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)
Shipping: 

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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