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: KCNK3
Sanger Sequencing
$510
Test Code: 2113
Deletion / Duplication
$680
Test Code: 2114
Sanger/Del Dup Comprehensive
$1,090
Test Code: 2115

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

Test Details

Technical Information
Genes: 
KCNK3
Disease Groups: 
Cardiovascular Disorders
MIM: 
615344
Billing
Price: 
$510
CPT Codes: 
81479 x 1
Ordering
SKU:
2113
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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