Familial Amyloidosis (hATTR) via the TTR Gene
Use
This test is targeted for individuals displaying clinical or suspected hereditary transthyretin amyloidosis (ATTR) symptoms, those with tissue biopsies indicating amyloid deposits or positive anti-TTR antibodies, and individuals with a family history of amyloidosis without a known causative variant. It aids in confirming a diagnosis of hATTR through the identification of genetic variants in the TTR gene.
Special Instructions
Test options include Exome-Wide CNV Analysis and are subject to institutional or patient preferences. The test can be ordered with other Pre-Gxome-based or custom panel tests, potentially adding options like STAT Testing that incurs a surcharge. Please ensure that all test requisition forms and specimen labels are correctly filled to avoid delays.
Limitations
This genetic test evaluates only the TTR gene and associated CNVs for familial amyloidosis, without examining other potential causes of amyloidosis. The test results should be interpreted considering detailed clinical and family history, and genetic counseling is advised. False negatives may occur due to methodological limitations or sample quality issues.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided