Invitae Congenital Heart Disease Panel
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant