Invitae Aortopathy Comprehensive Panel
Use
The Invitae Aortopathy Comprehensive Panel is designed for individuals suspected of having inherited aortopathy or related connective tissue disorders. This panel analyzes genes associated with isolated thoracic aortic aneurysms and dissections (TAAD) and multisystem disorders that may feature aortopathy. Comprehensive testing is important due to significant clinical overlap among different conditions, potentially streamlining evaluations for multiple disorders from a single clinical indication.
Special Instructions
This test includes analysis of up to 35 genes, incorporating preliminary-evidence genes, which have early clinical association with aortopathy. Customized testing is available by selecting specific genes of interest. The turnaround time is 10 to 21 calendar days, typically averaging 14 days. New York State approval is confirmed.
Limitations
The sensitivity for detecting single nucleotide variants, insertions, and deletions 99%. Larger insertions/deletions may have marginally reduced sensitivity. Exon-level deletions and duplications are detected with exon-level resolution. Limitations include possible undetected structural rearrangements, mosaicism, and mapping ambiguities. Regions outside defined coding areas, including most promoters, non-coding exons, and complex structures like tandem repeats, may not be 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)