TTR Gene, Full Gene Analysis, Varies
Use
This test is useful for establishing a molecular diagnosis for patients with amyloidosis and identifying variants within TTR known to be associated with amyloidosis. It allows for predictive testing of at-risk family members and aids in diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for amyloidosis.
Special Instructions
A previous bone marrow transplant from an allogenic donor will interfere with testing. Specimens are preferred to be received within optimal collection time frames specified in the specimen requirements. Informed consent is required for New York clients, and documentation should accompany the request form or electronic order.
Limitations
Next-generation sequencing may not detect all types of genomic variants, and certain regions may not be effectively evaluated due to technical limitations, such as regions of homology, high GC content, and repetitive sequences. The test is not designed to detect low levels of mosaicism or to differentiate between somatic and germline variants. Deletions/duplications extending past genes included in the panel may occur and are not typically reported for unlisted genes. It is important to interpret test results in the context of clinical findings, family history, and other laboratory data.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 94225-0
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
Result Turnaround Time
14-21 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.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |