Invitae Hereditary Transthyretin-mediated amyloidosis (hATTR amyloidosis) Test
Use
This test analyzes the TTR gene associated with familial transthyretin amyloidosis—the most common type of familial amyloid polyneuropathy. Individuals with clinical symptoms of transthyretin amyloidosis may benefit from diagnostic genetic testing to better understand risks, confirm a diagnosis, or inform management. Asymptomatic individuals within a family with a known pathogenic variant may also benefit, as it may clarify their own personal risk of developing transthyretin amyloidosis or inform medical management.
Special Instructions
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Limitations
Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements or variants embedded in complex sequence, may not be detected. Sequence changes in promoter, non-coding exons, and other non-coding regions are not covered unless explicitly guaranteed.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)