Invitae Antithrombin III Deficiency Test
Use
The Invitae Antithrombin III Deficiency Test analyzes the gene associated with antithrombin III deficiency, which is characterized by reduced plasma antithrombin activity and an increased risk for venous or arterial thrombosis and venous thromboembolism. This condition can have a significant impact on an individual's health by predisposing them to potentially life-threatening blood clots. The test is designed to identify individuals at risk, allowing for appropriate medical management and intervention to prevent these serious events.
Special Instructions
Preferred specimen is a 3mL whole blood sample collected in a purple-top EDTA tube (K2EDTA or K3EDTA). Alternate specimens such as saliva, buccal swab, and genomic DNA are also accepted.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp in length. However, certain types of variants, such as structural rearrangements or variants embedded in sequences with complex architecture, may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Sequence changes in promoter, non-coding exons, and other non-coding regions are not covered unless explicitly guaranteed. Single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality.
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)