Telomere Biology Disorders Gene Panel, Varies
Use
This test provides a comprehensive genetic evaluation for patients with a personal or family history suggestive of a telomere biology disorder. Its purpose is to establish a diagnosis, allowing for appropriate management and surveillance for disease features based on the gene and/or variant involved. This test also aids in identifying disease-causing variants within genes associated with telomere defects, facilitating predictive testing of at-risk family members.
Special Instructions
Not provided.
Limitations
This test is specifically validated for detecting germline variants and may not effectively detect somatic variants associated with tumorigenesis. It does not provide diagnostic, prognostic, or therapeutic information for somatic variants. Next-generation sequencing might not detect all genomic variants due to technological constraints. False-negative or false-positive results are possible. Regions of high GC content and repetitive sequences may be less effectively evaluated. The test may not detect mosaicism or differentiate somatic from germline variants. Confirmation of results may require additional testing methodologies.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 35463-9 - Telomere analysis Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Storage Instructions
Ambient (preferred) for 4 days, refrigerated is acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |