Invitae Congenital Heart Disease Panel

Casandra

Casandra Test Code IN04204Version 1 (DRAFT)

Performing Lab

Lab Invitae CorporationLab Test ID 04204

Invitae Congenital Heart Disease Panel

Clinical Use

Use

The Invitae Congenital Heart Disease Panel analyzes genes associated with both isolated and syndromic congenital heart defects. It helps establish a genetic diagnosis, potentially guiding medical management and determining the need for additional evaluations and procedures. This test is useful for individuals with congenital heart defects, with or without additional syndromic features, as these defects are genetically heterogeneous and a leading cause of childhood morbidity and mortality worldwide.

Special Instructions

This panel covers 55 genes. It can eliminate the need for serial gene testing. For a more comprehensive test for congenital heart disease with additional genes associated with situs inversus or heterotaxy, consider the Invitae Congenital Heart Disease and Heterotaxy Panel.

Limitations

The assay may not detect certain structural rearrangements or variants embedded in complex sequences, such as structural rearrangements, gene conversion events, or translocations. Single-exon events might not be analyzed due to sequence properties or data quality. The analysis excludes changes in non-coding regions unless explicitly described as covered.

Test Details

New York Approved

Methodology

NGS (Targeted)

Biomarkers

The panel performs full-gene sequencing and deletion/duplication analysis targeting 55 genes involved in congenital heart diseases. It achieves high analytical sensitivity and specificity for SNVs, indels, and exon-level CNVs.

Mutation (14 genes)