Invitae Short QT Syndrome Panel
Use
This test is for individuals with a clinical diagnosis of short QT syndrome (SQTS). The panel includes genes that are definitively associated with SQTS or other inherited arrhythmia disorders that can present with clinical features similar to SQTS. Individuals with clinical symptoms of SQTS may benefit from diagnostic genetic testing to confirm diagnosis, clarify risks, or inform management. Asymptomatic family members with a known SQTS pathogenic variant may also benefit, as testing may clarify their risk of developing SQTS or inform medical management.
Special Instructions
The test can be customized by selecting or removing specific genes. Reference to detailed assay limitations will be provided in the report. Consult client services for specific queries.
Limitations
The assay achieves over 99% analytical sensitivity and specificity for SNVs, insertions, and deletions less than 15bp, and exon-level deletions/duplications, with some limitations for longer insertions. Structural rearrangements, complex sequence regions, and specific non-coding variants might not be detected. Variability in data quality may occasionally hinder single-exon CNV analysis.
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)