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 edema.read more

Tests Available

By gene: EIF2AK4
Next Generation Sequencing
$990
Test Code: 2051
Deletion / Duplication
$990
Test Code: 2052
NGS/Del Dup Comprehensive
$1,365
Test Code: 2053

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

Test Details

Technical Information
Genes: 
EIF2AK4
Disease Groups: 
Cardiovascular Disorders
MIM: 
234810
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
2051
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: 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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