Invitae Long QT Syndrome Panel
Use
This test is for individuals with a clinical diagnosis of long QT syndrome (LQTS). The primary Invitae Long QT Syndrome panel includes genes that are definitively associated with LQTS or other inherited arrhythmia disorders that may present with clinical features similar to LQTS. Individuals with clinical symptoms of LQTS may benefit from diagnostic genetic testing to establish or confirm diagnosis, clarify risks, or inform management. Asymptomatic members of a family with a known LQTS pathogenic variant may also benefit by avoiding activities and medications that can trigger symptoms.
Special Instructions
Ordering requires consideration of clinical presentation and family history. Optional add-on preliminary evidence genes can be included at the clinician's discretion. Turnaround time is typically 10 to 21 calendar days. Specimen collection options include whole blood, saliva, buccal swab, and gDNA.
Limitations
This assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp, and exon-level deletions and duplications. Certain complex variants may not be detected, such as inversions, gene conversion events, or translocations. It may not fully resolve details about mosaicism, phasing, or mapping ambiguity. Coverage limitations may exist for promoter, non-coding exons, and other non-coding regions.
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)