Congenital Heart Defect NGS Panel

Panel Description

Diseases Targeted:

Congenital Heart Defect

Overview:

Congenital heart defects (CHD) are structural heart problems present at birth that impact the way the heart works. These are the most common type of birth defects and they can range from mild to severe. Some conditions, such as pulmonary atresia and coarctation of the aorta, are critical and require immediate intervention after birth. CHDs can be detected before birth with ultrasound or right after birth with an oximetry screening. However, even negative results on these tests do not mean that a CHD is not present. Symptoms sometimes appear later in life and echocardiogram may be recommended to confirm the diagnosis of CHD. Genetic testing is highly recommended when an affected patient has a family history of a similar birth defect.

CHD may be an isolated finding or occur as part of a syndrome. The Fulgent Congenital Heart Defects NGS Panel includes genes associated with non-syndromic and syndromic CHD, including Noonan syndrome, Holt-Oram syndrome, and primary ciliary dyskinesia.

Who is this test for?

This panel may be appropriate for anyone with a personal or family history of CHD. Individuals with a family history who are considering having children can benefit from testing to assess the risk for their baby.

What are the potential benefits for my patient?

Genetic testing can help determine the cause of CHDs and assist with family planning. A confirmed molecular diagnosis may determine if screening of additional body systems is warranted. Parents identified with high risk for their children to be affected can consider preconception, prenatal, and postnatal options for screening and diagnostic testing.

Genetic testing for disorders associated with congenital heart defects can:

Establish or confirm the appropriate diagnosis
Identify risks for additional related symptoms
Assist in family planning
Assist in modifying lifestyle changes, including diet and exercise
Result in more personalized treatment and symptom management
Inform family members about their own risk factors
Connect patients to relevant resources & support
Provide options for family planning

Test Description

Order Options:

Sequencing
Del/Dup
Rush / STAT
Exclude VUS
MCC
Duo/Trio

Turnaround Time:

3-5 weeks

Cost:

Call for details

Genes:

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 )

Coverage:

96% at 20x

Specimen Requirements:

Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)

Test Limitations:

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 Specifics:

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 Codes:

CPT Code

81407, 81408, 81479

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

Description	Download
Congenital Heart Defects

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