Familial Transthyretin Amyloidosis (TTR) Sequencing
Also known as: TTR NGS
Use
Familial transthyretin amyloidosis (ATTR) is an inherited disorder caused by pathogenic variants of the TTR gene. It results in amyloid accumulation in various tissues and manifests in phenotypes such as familial amyloid polyneuropathy, familial amyloid cardiomyopathy, and leptomeningeal amyloidosis. Testing is used to confirm a clinical diagnosis.
Special Instructions
Testing is not recommended for minors without prior approval, and informed consent is required for New York patients. For additional information, contact an ARUP genetic counselor.
Limitations
A negative result does not exclude a diagnosis of hereditary amyloidosis. The test only detects variants within the coding regions and intron-exon boundaries of the TTR gene. Certain deletions, duplications, insertions, regulatory region variants, and large CNVs will not be identified by the test. Diagnostic errors may occur due to rare sequence variations.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA), or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |