Congenital Heart Defect NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes
  • Resources

Panel Description

Congenital Heart Defect
The Congenital Heart Defect Focus Panel examines 113 genes associated with congenital heart defects (CHD).

Patients with a personal and/or family history suggestive of CHD. Red flags for CHD can include, but are not limited to, abnormal heart rhythms, blue tinted skin, shortness of breath, failure to feed or thrive, and tissue and organ swelling.

Patients identified with CHD can benefit from increased surveillance and preventative steps to better manage their risks. Medical intervention can include medications to lower blood pressure and control heart rate, implantable devices, catheter procedures, and surgery. Serious cases may require a heart transplant. Also, your patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in your patient, close relatives (children, siblings, parents) could have as high as a 50% risk to also be at increased risk. In some cases, screening should begin in childhood.

Test Description

Print
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3 - 5 weeks
Call for details
ACTC1, ACVR2B, AKT3, ALMS1, ARL6, ARMC4, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BRAF, CBL, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CEP290, CFAP298, CFAP53, CHD7, CITED2, CPS1, CRELD1, CYR61, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DTNA, ELN, FLNA, FOXF1, FOXH1, GATA4, GATA6, GDF1, GJA1, GPC3, HAND1, HRAS, INVS, JAG1, KIF7, KRAS, LEFTY2, MAP2K1, MAP2K2, MCIDAS, MED13L, MKKS, MKS1, MMP21, MYH6, NEK8, NKX2-5, NKX2-6, NME8, NODAL, NOTCH1, NPHP3, NR2F2, NRAS, NSD1, NTRK3, OFD1, PIK3CA, PIK3R2, PITX2, PKD1L1, PTPN11, RAF1, RAI1, RBM10, RIT1, RPGRIP1L, SEMA3E, SHOC2, SMAD6, SOS1, SPAG1, TAB2, TBX1, TBX20, TBX5, TCTN2, TLL1, TMEM216, TMEM231, TMEM67, TRIM32, TTC8, WDPCP, ZFPM2, ZIC3, ZMYND10 ( 115 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Gene Notes
PIK3CA Because the vast majority of PIK3CA pathogenic variants arise postzygotic and are thus mosaic, more than one tissue may need to be tested. Failure to detect a PIK3CA pathogenic variant does not exclude a clinical diagnosis of the PIK3CA-associated segmental overgrowth disorders in individuals with suggestive features (PubMed: 23946963).
ZIC3 The current testing method does not assess trinucleotide repeat expansions in this gene.
CPT Code 81210, 81405, 81406, 81407, 81479x1

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

Resources

References:
- NIH: National Heart, Lung, and Blood Institute: What Are Congenital Heart Defects? https://www.nhlbi.nih.gov/health/health-topics/topics/chd