TTR Single Gene Analysis
Also known as: Transthyretin amyloidosis
Use
This test is used for diagnostic testing for transthyretin amyloidosis and presymptomatic testing for family members.
Special Instructions
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In cases where there is a known variant documented in the family, the physician may prefer to order GeneSeq Cardio Targeted Variant Analysis [485208].
Limitations
The test does not detect germline mosaicism or large chromosomal aberrations such as rearrangements and gene fusions. It does not cover variants in genes not included in this test or potential inter/intragenic interactions. Factors like rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, and sample mishandling can lead to false results. Variant classification may change over time as more information becomes available. This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the FDA.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 19102-3
- 19102-3
- 42784-9
- 31208-2
- 89993-0
- 42349-1
- 94225-0
- 53039-4
- 8262-8
- 62385-0
- 55752-0
- 8251-1
- 49549-9
- 75608-0
- 72486-4
- 51969-4
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
8.5 mL
Minimum Volume
3 mL
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy is required. Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Patient Preparation
Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |