Long QT Syndrome Gene Panel, Varies
Use
This test utilizes next‑generation sequencing to detect single nucleotide and copy number variants in 10 genes associated with long QT syndrome (CACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNH2, KCNJ2, KCNQ1, SCN5A, and TRDN). Identification of a disease‑causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for LQTS.
Special Instructions
Not provided.
Limitations
There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis due to technical limitations, including regions of homology, high GC content, and repetitive sequences. Specific gene regions not routinely covered will be noted in the report. For saliva or blood‑spot specimens, DNA quantity/quality may be inadequate in some regions and additional specimen may be required. DNA extracted from inadequate quality may result in failed testing and report of failed result.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 55146-5 - Familial LQTS Mut Anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender top (EDTA) or yellow top (ACD); acceptable: green top (sodium heparin)
Collection Instructions
Invert several times to mix blood; send whole blood in original tube without aliquoting
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |