Ordering
  • Test code: 04204
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
Billing
 

Invitae Congenital Heart Disease Panel

Test description

The Invitae Congenital Heart Disease Panel analyzes 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.

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 (55 genes)

ACTC1 ACVR2B ALMS1 BCOR BRAF CASZ1 CBL CHD7 CRELD1 ELN FOXH1 GATA4 GATA5 GATA6 GDF1 GJA1 GPC3 HAND1 HAND2 HRAS JAG1 KDM6A KMT2D KRAS LEFTY2 MAP2K1 MAP2K2 MED13L MEIS2 MESP1 MYH6 NFATC1 NKX2-5 NKX2-6 NODAL NOTCH1 NR2F2 NRAS NSD1 PLD1 PTPN11 RAF1 RBFOX2 RIT1 ROBO1 SHOC2 SMAD6 SOS1 TAB2 TBX1 TBX20 TBX5 TFAP2B ZFPM2 ZIC3

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
  • Alström syndrome
  • Cardio-facio-cutaneous syndrome (CFC)
  • Char syndrome
  • CHARGE syndrome
  • Congenital heart defects
  • Costello syndrome
  • Holt-Oram syndrome
  • Noonan spectrum disorders (NSDs), including Noonan syndrome, Noonan syndrome with multiple lentigines (NSML), and Noonan syndrome-like disorder with loose anagen hair
  • Oculo-facio-cardio-dental syndrome (OFCD)
  • Simpson-Golabi-Behmel syndrome (SGBS)
  • Sotos syndrome
  • Heterotaxy

To view the complete clinical description of this panel, click here.

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

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, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. 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
CASZ1 NM_001079843.2
CBL NM_005188.3
CHD7 NM_017780.3
CRELD1 NM_001031717.3
ELN NM_001278939.1
FOXH1 NM_003923.2
GATA4 NM_002052.3
GATA5 NM_080473.4
GATA6 NM_005257.5
GDF1 NM_001492.5
GJA1 NM_000165.4
GPC3* NM_004484.3
HAND1 NM_004821.2
HAND2 NM_021973.2
HRAS NM_005343.2
JAG1 NM_000214.2
KDM6A NM_021140.3
KMT2D NM_003482.3
KRAS NM_004985.4
LEFTY2 NM_003240.3
MAP2K1 NM_002755.3
MAP2K2 NM_030662.3
MED13L NM_015335.4
MEIS2 NM_170674.4
MESP1 NM_018670.3
MYH6 NM_002471.3
NFATC1 NM_006162.4
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
PLD1 NM_002662.4
PTPN11 NM_002834.3
RAF1 NM_002880.3
RBFOX2 NM_001082578.1
RIT1 NM_006912.5
ROBO1* NM_002941.3
SHOC2 NM_007373.3
SMAD6 NM_005585.4
SOS1 NM_005633.3
TAB2 NM_015093.5
TBX1 NM_080647.1
TBX20 NM_001077653.2
TBX5 NM_000192.3
TFAP2B NM_003221.3
ZFPM2 NM_012082.3
ZIC3 NM_003413.3

GPC3: Sequencing analysis for exons 3 includes only cds +/- 10 bp.
ROBO1: Deletion/duplication analysis is not offered for exon 31.