• Test code: 04204
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit

Invitae Congenital Heart Disease Panel

Test description

The Invitae Congenital Heart Disease Panel analyzes 42 genes that are associated with both isolated and syndromic congenital heart defects, including some genes associated with heterotaxy that have specifically been linked to congenital heart defects. For a comprehensive test for congenital heart disease with additional genes associated with situs inversus or heterotaxy, please refer to the Invitae Congenital Heart Disease and Heterotaxy Panel below.

This test may establish a genetic diagnosis, which would eliminate the need for serial gene testing. A genetic diagnosis may guide medical management, enabling a clinician to determine the need for additional evaluations, screenings, and procedures.

Order test

Primary panel (42 genes)


Alternative tests to consider

There can be significant clinical overlap between heterotaxy and congenital heart disease. The Invitae Congenital Heart Disease Panel includes some genes associated with heterotaxy that have specifically been linked to congenital heart defects. The Invitae Congenital Heart Disease and Heterotaxy Panel is a comprehensive test for congenital heart disease with additional genes associated with situs inversus or heterotaxy, and depending on your patient’s clinical presentation, this panel may be more appropriate. The Invitae Congenital Heart Disease and Heterotaxy Panel cannot be combined with other cardiology panels either at initial order or re-requisition.

  • Alagille syndrome
  • aortic valve disorder
  • atrial septal defect
  • atrioventricular septal defect
  • cardio-facio-cutaneous syndrome (CFC)
  • CHARGE syndrome
  • congenital heart defects
  • conotruncal heart malformations
  • Costello syndrome
  • Holt-Oram syndrome
  • hypoplastic left heart syndrome
  • Noonan syndrome with multiple lentigines (NSML) – formerly known as LEOPARD syndrome
  • Noonan syndrome
  • oculo-facio-cardio-dental syndrome
  • Simpson-Golabi-Behmel syndrome
  • Sotos syndrome
  • supravalvar aortic stenosis
  • tetralogy of Fallot
  • transposition of the great arteries
  • ventricular septal defect
  • Williams syndrome

Congenital heart disease—more commonly referred to as congenital heart defects (CHD)—is the most common birth defect, affecting 35,000-40,000 newborns each year in the US. It is a leading cause of childhood morbidity and mortality worldwide. CHD can occur in isolation or within a constellation of symptoms comprising a genetic syndrome.

The clinical sensitivity for this test is unknown. Structural heart defects are clinically and genetically heterogeneous, and the percentage of patients with congenital heart disease and a pathogenic variant in one of the genes offered in this panel has not been determined.

Congenital heart disease can be inherited in several patterns, including autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive.

The penetrance, symptoms and associated risks of congenital heart defects depend upon the specific variants in the identified gene.

Congenital heart disease affects approximately 8–10 per 1,000 live births and is the single largest cause of infant morbidity and mortality worldwide. Epidemiologic studies suggest that a genetic or environmental cause for CHD is identifiable in approximately 20%–30% of cases, with 3%–5% of CHD due to a detectable single-gene disorder. The combined prevalence of the disorders tested for in this panel has not been determined.

This test may be considered for individuals who have congenital heart defects with or without additional congenital anomalies or syndromic features.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ACTC1 NM_005159.4
ACVR2B NM_001106.3
ALMS1 NM_015120.4
BCOR NM_017745.5
BRAF NM_004333.4
CBL NM_005188.3
CHD7 NM_017780.3
CRELD1 NM_001031717.3
ELN NM_001278939.1
FOXH1 NM_003923.2
GATA4 NM_002052.3
GATA6 NM_005257.5
GDF1 NM_001492.5
GJA1 NM_000165.4
GPC3 NM_004484.3
HAND1 NM_004821.2
HRAS NM_005343.2
JAG1 NM_000214.2
KRAS NM_004985.4
LEFTY2 NM_003240.3
MAP2K1 NM_002755.3
MAP2K2 NM_030662.3
MED13L NM_015335.4
MEIS2 NM_170674.4
MYH6 NM_002471.3
NKX2-5 NM_004387.3
NKX2-6 NM_001136271.2
NODAL NM_018055.4
NOTCH1 NM_017617.3
NR2F2 NM_021005.3
NRAS NM_002524.4
NSD1 NM_022455.4
PTPN11 NM_002834.3
RAF1 NM_002880.3
RIT1 NM_006912.5
SHOC2 NM_007373.3
SMAD6 NM_005585.4
SOS1 NM_005633.3
TBX1 NM_080647.1
TBX5 NM_000192.3
ZFPM2 NM_012082.3
ZIC3 NM_003413.3