Invitae Gaucher Common Variants Test
Use
The Invitae Gaucher Common Variants Test offers detection of the 19 most common GBA variants associated with Gaucher disease. Gaucher disease is a clinically heterogeneous, multi-systemic, autosomal recessive lysosomal storage disorder caused by beta-glucocerebrosidase enzyme deficiency. This test helps confirm a diagnosis, guides treatment and management decisions, and provides genetic counseling. Identification of disease-causing variants aids in the risk assessment and carrier status determination for at-risk relatives.
Special Instructions
Recombinant alleles such as gene conversions or fusions between GBA and its pseudogene can be detected although sensitivity may be reduced. When sensitivity is reduced, zygosity may be reported as 'unknown'.
Limitations
The test is limited to 19 targeted variants. It excludes large structural rearrangements or variants in complex sequences such as short tandem repeats or segmental duplications. Variants embedded in such complex sequences may not be detected. Additionally, mosaicism, phasing, or mapping ambiguity cannot be fully resolved. Variants outside the analyzed regions are not covered.
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)