Short QT Syndrome Gene Panel, Varies
Use
This test provides a genetic evaluation for patients with a personal or family history suggestive of short QT syndrome. It assists in establishing a diagnosis by identifying disease-causing variants in genes associated with SQTS. These genetic findings can aid in diagnosis, prognosis, clinical management, familial screening, and genetic counseling for short QT syndrome.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all genomic variants. There can be false-negative or false-positive results, and some regions may have variable coverage. This test might not accurately detect deletions/insertions exceeding specific sizes or detect low levels of mosaicism or differentiate between somatic and germline variants. Additionally, some gene regions cannot be effectively analyzed due to technical limitations. If a genetic disorder is suspected but not detected, alternative evaluation methods are recommended.
New York Approved
Methodology
NGS
Biomarkers
LOINC Codes
- 51966-0 - Gene dis DNA anl Pnl
- 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
- 18771-6 - Provider signing name
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD); acceptable: Green top (Sodium heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |