Invitae Tay-Sachs Disease Test
Use
The Invitae Tay-Sachs Disease test identifies the specific subtype of Tay-Sachs disease, a neurodegenerative disorder characterized by the accumulation of GM2 ganglioside in the brain. This test aids in medical management, predicting disease progression, and outcome for patients. It also facilitates the initiation of treatment. Tay-Sachs disease ranges from acute infantile forms to less severe juvenile and adult-onset forms. The level of HEXA enzyme activity is inversely correlated with disease severity.
Special Instructions
Turnaround time for this test is 10–21 calendar days, averaging 14 days. New York approval is confirmed for this test. Preferred specimen is 3mL whole blood in a purple-top EDTA tube, with alternatives being saliva, buccal swab, and genomic DNA. Order inquiries and information about billing can be directed to Invitae's customer support.
Limitations
The analysis covers clinically important gene regions, including coding exons and adjacent intronic sequences. Single nucleotide variants, small indels, and exon-level deletions/duplications are robustly detected with >99% sensitivity and specificity. Certain structural variants and complex sequence architectures may not be detected. Some limitations may include mosaicism or mapping ambiguity not fully resolved. Non-coding regions are generally excluded unless specified.
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