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Test Code
5150
Test Name
Congenital Heart Disease 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 this disorder. Recommended for individuals with a personal and/or family history of this disorder 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

The Congenital heart disease NGS panel consists of sixteen genes: CHD7, ELN, GATA4, GATA6, GDF1, JAG1, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, TAB2, TBX1, TBX5, TBX20 and ZIC3.


Gene

Disorder

MIM

Inheritance

CHD7

CHARGE syndrome

214800

AD

ELN

Supravalvular aortic stenosis

185500

AD

GATA4

Atrial septal defect 2

Atrioventricular septal defect 4

Ventricular septal defect 1

Tetralogy of Fallot

607941

614430

614429

187500

AD

GATA6

Atrial septal defect 9

Atrioventricular septal defect 5

Persistent truncus arteriosus

Tetralogy of Fallot

Pancreatic agenesis and congential heart defects

614475

614474

217095

187500

600001

AD

GDF1

Double-outlet right ventricle

Tetralogy of Fallot

Transposition of great arteries, dextro-looped 3

Right atrial isomerism

217095

187500

613854

208530

AD

AD

AD

AR

JAG1

Alagille syndrome

Tetralogy of Fallot

118450

187500

AD

NKX2-5

Atrial septal defect 7

Ventricular septal defect 3

Conotruncal heart malformations

Hypoplastic left heart syndrome 2

Tetralogy of Fallot

108900

614432

217095

614435

187500

AD

NKX2-6

Conotruncal heart malformations

Persistent truncus arteriosus

217095

AR

NOTCH1

Aortic valve disease 1

Adams-Oliver syndrome 5 

109730

616028

AD

NOTCH2

Alagille syndrome 2

Hajdu-Cheney syndrome

610205

102500

AD

NR2F2

Congenital heart defects, multiple types, 4

615779

AD

TAB2

Congenital heart defects, multiple types, 2

614980

AD

TBX1

DiGeorge syndrome

Velocardiofacial syndrome

Conotruncal anomaly face syndrome

Tetralogy of Fallot

188400

192430

217095

187500

AD

TBX5

Holt-Oram syndrome

142900

AD

TBX20

Atrial septal defect 4

611363

AD

ZIC3

Congenital heart defects, nonsyndromic, 1, X-linked

Heterotaxy, visceral, 1, X-linked

306955

XLR
Testing Schedule
Monday-Friday
Genes
GATA6, ELN, NOTCH2, TAB2, TBX20, NKX2-6, NR2F2, GDF1, JAG1, ZIC3, NOTCH1, NKX2-5, CHD7, TBX1, GATA4, TBX5
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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