Invitae Congenital Heart Defects and Heterotaxy Panel
Use
The Invitae Congenital Heart Defects and Heterotaxy Panel analyzes genes associated with congenital heart defects and/or laterality defects, including heterotaxy and situs inversus. These genes were selected based on the most comprehensive test for congenital heart defects. This test may establish a genetic diagnosis, which would eliminate the need for serial gene testing and guide medical management for additional evaluations, screenings, and procedures.
Special Instructions
Invitae Congenital Heart Defects and Heterotaxy Panel includes genes associated with primary ciliary dyskinesia. Significant clinical overlap exists between heterotaxy, primary ciliary dyskinesia, and congenital heart defects, presenting a challenge in differentiation early in life. Consider testing genes related to all three conditions in individuals with congenital heart defects.
Limitations
This test achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp in length, and exon-level deletions and duplications. Larger insertions and deletions within full exons may have reduced sensitivity. Certain structural rearrangements, gene conversion events, and segments with complex architecture may not be detected. Variants such as mosaicism are not guaranteed to be fully resolvable. Unless stated, promoter and non-coding changes are not analyzed.
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)