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Test Code
C2118
Test Name
Pulmonary Hypertension NGS Panel
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of a pulmonary hypertension disorder. 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. Recommended for individuals with a personal and/or family history of pulmonary hypertension to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Description

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. 

Gene

Disorder

MIM

Inheritance

ACVRL1

Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)

600376

AD

BMPR1B

Pulmonary hypertension, BMPR1B related

-

AD

BMPR2

Pulmonary hypertension, familial primary, 1 (PPH1)

Pulmonary venoocclusive disease 1, autosomal dominant (PVOD1)

178600

265450

AD

AD

CAV1

Pulmonary hypertension, primary, 3 (PPH3)

615343

AD

EIF2AK4

Pulmonary venoocclusive disease 2 (PPH2)

234810

AR

ENG

Telangiectasia, hereditary hemorrhagic, type 1 (HHT1)

187300

AD

FOXF1

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV)

265380

AD

GDF2

Telangiectasia, hereditary hemorrhagic, type 5 (HHT5)

615506

AD

KCNA5

Pulmonary hypertension, KCNA5 related

-

AD

KCNK3

Pulmonary hypertension, primary, 4 (PPH4)

615344

AD

SMAD4

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT)

Myhre syndrome (MYHRS)

175050

139210

AD

AD

SMAD9

Pulmonary hypertension, primary, 2 (PPH2)

615342

AD
Testing Schedule
Monday-Friday
Genes
ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, SMAD4, SMAD9
MIM
178600, 615342, 615343, 615344
Disease Group
Cardiovascular Disorders
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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