Invitae Sandhoff Disease Test
Use
The Invitae Sandhoff Disease Test analyzes the hexosaminidase B (HEXB) gene. Pathogenic variants in HEXB are known to cause Sandhoff disease. Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives.
Special Instructions
Preferred specimen: 3mL whole blood in a purple-top EDTA tube. Alternate specimens: Saliva, buccal swab, and gDNA are also accepted.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. However, insertions and deletions larger than 15bp but smaller than a full exon may have reduced sensitivity. It may not detect structural rearrangements, such as inversions or gene conversion events, or variants embedded in complex sequence architectures. Analysis of an extracted genomic DNA sample means that in rare cases, it may not represent the patient's constitutional genome.
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)