Long QT Panel, Sequencing and Deletion/Duplication
Also known as: LQT NGS
Use
This test is used to determine the etiology of long QT syndrome (LQTS) in symptomatic individuals. It is also useful for presymptomatic testing in individuals with a family history of LQTS or sudden cardiac death. The test can help identify pathogenic variants that cause LQTS, aiding in the diagnosis and management of the condition. LQTS is characterized by prolongation of the QTc interval and T-wave abnormalities on electrocardiogram, associated with tachyarrhythmias and potentially serious cardiac events such as syncope, ventricular fibrillation, or sudden cardiac death.
Special Instructions
Not provided.
Limitations
A negative result does not exclude a heritable form of long QT syndrome. The test detects variants within the coding regions and intron-exon boundaries of the targeted genes, but deletions, duplications, and insertions of any size may not be detected by massively parallel sequencing. Regulatory region variants and deep intronic variants are not identified. Single exon deletions and duplications may be reported at a lower sensitivity. Diagnostic errors may occur due to rare sequence variations, presence of pseudogenes, repetitive, or homologous regions, and other technical limitations.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated.
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant