Gaucher Disease Enzyme Analysis (Glucocerebrosidase)
Use
Gaucher disease occurs at an increased frequency in individuals of Ashkenazi Jewish descent, with a carrier frequency of approximately 1 in 15. It is a lysosomal storage disorder with variable severity that, if untreated, may result in anemia, hepatosplenomegaly, nosebleeds, and fractures. In the more severe and rare form, the brain and nervous system are involved. Enzyme analysis is performed in individuals suspected of having the disease, who may need enzyme replacement therapy.
Special Instructions
Specimens must arrive at the testing laboratory within four days of collection. Collection is recommended from Monday through Wednesday only. Although enzyme testing is available as a standalone test, it is strongly recommended to combine both DNA and enzyme testing.
Limitations
The test may not detect cases of Gaucher disease with atypical presentations. Samples are vulnerable to rejection due to issues such as gross hemolysis, freezing, or exceeding the viability window. It is essential that whole blood samples allow for efficient isolation of white blood cells; failure in this aspect can lead to diagnostic inaccuracies.
Methodology
Other
Biomarkers
LOINC Codes
- 35303-7
- 42784-9
- 11329-0
- 8670-2
- 42349-1
- 75303-7
- 77202-0
- 49549-9
- 72486-4
- 62364-5
- 50398-7
Result Turnaround Time
3-13 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
10 mL
Minimum Volume
Not provided
Container
Adult: Two 10-mL lavender-top (EDTA) tubes. Pediatric: One lavender-top (EDTA) tube.
Storage Instructions
Refrigerate after collection. Transport to the testing laboratory using cool packs. Do not allow the sample to freeze. Time-sensitive; specimens must be received within four days of collection; collect/ship Monday through Thursday only.
Causes for Rejection
Gross hemolysis; frozen sample; past viability window; unable to isolate white blood cells