Congenital Heart Disease Gene Panel, Varies

Casandra

Casandra Test Code MC75546Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID CHDGGCPT Codes 81404, 81405, 81406, 81407, 81408, 81479

Congenital Heart Disease Gene Panel, Varies

Clinical Use

Use

This test provides a genetic evaluation for patients with a personal or family history of congenital heart disease. It aids in establishing a diagnosis of a genetic condition associated with congenital heart disease. Identification of disease-causing variants may help with diagnosis, prognosis, clinical management, familial screening and genetic counseling for congenital heart disease. The test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 44 genes associated with isolated and syndromic congenital heart disease.

Special Instructions

Prior authorization is available but not required for this test. If proceeding with prior authorization, submit the required form with the specimen. Consultation with the laboratory is required for all prenatal testing; a genetic counselor is available at 800-533-1710. All prenatal specimens must be accompanied by a maternal blood specimen.

Limitations

Next-generation sequencing may not detect all types of genomic variants. There may be variable depth of coverage for some gene regions, and technical limitations exist for regions of homology, high guanine-cytosine content, and repetitive sequences. False-negative or false-positive results may occur, and negative results do not rule out genetic disorders. Mosaicism is difficult to detect. Sensitivity is above 99% for single nucleotide variants and varies for deletions and insertions.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

Mutation (44 genes)

ACTBACTG1BRAFCBLCHD7CITED2ELNFOXF1FOXH1GATA4GATA5GATA6GDF1HRASJAG1KRASLZTR1MAP2K1MAP2K2MRASMYH11NKX2-5NKX2-6NODALNOTCH1NOTCH2NR2F2NRASPLD1PPP1CBPTPN11RAF1RIT1RRAS2SHOC2SMAD6SOS1SOS2TAB2TBX1TBX20TBX5TFAP2BZIC3