Gaucher Disease (GBA) Sequencing
Also known as: GBA FGS
Use
Gaucher disease (GD) is a lysosomal storage disorder with varying phenotypes from perinatal lethality to asymptomatic. There are three subtypes of GD, with Type 1 manifesting bone disease, hepatosplenomegaly, anemia, thrombocytopenia, and lung disease but no CNS involvement. Type 2 presents CNS symptoms before age 2 and progresses rapidly, leading to death by age 4. Type 3 appears from age 2 with slowly progressing CNS symptoms resulting in death in the third or fourth decade. The test is used for carrier screening or diagnostic testing for GD in non-Ashkenazi Jewish individuals, detecting two pathogenic GBA variants on opposite chromosomes.
Special Instructions
Not provided.
Limitations
Diagnostic errors can occur due to rare sequence variations. The test may not detect variants in regulatory regions, deep intronic variants, or large deletions/duplications/insertions. Gene conversion and complex gene events might also go undetected. The test involves long-range PCR followed by bidirectional sequencing of all coding regions and intron-exon boundaries of the GBA gene.
Methodology
PCR-based (Long-range PCR)
Biomarkers
No genes
Gene
LOINC Codes
- 31208-2 - Specimen source
- 46988-2 - GBA gene Mut Tested Bld/T
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (K2 or K3EDTA), pink (K2EDTA), or yellow (ACD solution A or B)
Storage Instructions
Refrigerated; for New York clients, Ambient
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 1 week (4 days for NY clients) |
| Refrigerated | 1 month |
| Frozen | Unacceptable |
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