Alnylam Act® hATTR Amyloidosis Sponsored Testing Program
Use
This genetic test identifies mutations in the TTR gene associated with hereditary ATTR amyloidosis, a progressive condition that affects multiple organ systems including the nervous and cardiovascular systems. Patients eligible for testing include those with a family history of hATTR amyloidosis, positive imaging or biopsy results for TTR amyloid, or those presenting with clinical indicators such as neuropathies, autonomic dysfunction, cardiac issues, or other related symptoms. The test is intended to help diagnose hATTR amyloidosis and guide patient management.
Special Instructions
This test is part of a sponsored no-charge testing program that includes genetic counseling. Patients must meet specific clinical criteria for eligibility. Order sample collection kits through the provided website, and collect specimens according to the guidelines. Genetic counseling is available through Genome Medical for patients receiving positive or VUS results.
Limitations
The test specifically targets the TTR gene. It does not cover other potential causes of similar clinical symptoms. Variants of uncertain significance may be identified and require further evaluation. Testing may be affected by sample quality issues such as contamination with microbial or food DNA, particularly from saliva or buccal swabs.
Methodology
Sanger
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 ml - 5 ml
Minimum Volume
1 ml for small infants
Container
EDTA (purple top tube) or ACD (yellow top tube)
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | up to 8 days |
| Refrigerated | up to 8 days |