Test Gaucher disease, type (1, 2, 3, 3C and perinatal lethal)
Description
- Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide.
- Genes:
- GBA
- Disorders:
- Metabolic Disorders
- Clinical Utility:
- Confirmation of a clinical diagnosis, Carrier testing in unaffected family members
Methods
- Description:
- Delivery Time:
- 20 days
- Sample:
- 2-5 Ml Venous Blood Sample / DNA sample
- Alternative:
- Description:
- Multiplex ligation-dependent probe amplification
- Delivery Time:
- 20 days
- Sample:
- 2-5 mL Blood - Lavender Top Tube
- Alternative:
- Ops!
- No files are available!