Gaucher Disease (GBA), 8 Variants
Also known as: GBA
Use
Gaucher disease is a lysosomal storage disorder characterized by variable symptoms, including bone disease, hepatosplenomegaly, anemia, thrombocytopenia, and lung disease. It is particularly prevalent in Ashkenazi Jewish populations, with three subtypes based on symptom severity and presence of central nervous system involvement in Types 2 and 3. This test is designed to detect eight specific pathogenic variants within the GBA gene, which have a high clinical sensitivity for identifying carriers or affected individuals within the Ashkenazi Jewish population.
Special Instructions
Not provided.
Limitations
The test detects only the specified pathogenic variants within the GBA gene and does not identify other potential changes in the gene. Diagnostic errors may occur due to rare sequence variations or limitations in detecting variants not explicitly tested.
New York Approved
Methodology
PCR-based
Biomarkers
GBA
Gene
LOINC Codes
- 46988-2 - GBA gene Mut Tested Bld/T
- 35693-1 - GBA gene Mut Anl Bld/T
- 31208-2 - Specimen source
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)
Storage Instructions
Preferred transport temperature: Refrigerated.
Causes for Rejection
Plasma or serum, specimens collected in sodium heparin or lithium heparin tubes, and frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3 days |
| Refrigerated | 1 week |
| Frozen | 1 month |
Other tests from different labs that may be relevant