Gaucher Disease, (PGD-PGS)
On demand
Order number :
PG-14
GBA variants detection
Main indication:
Gaucher Disease lipid storage disease.
Test usage:
This test is used to detect mutations within the beta-glucocerebrosidase gene (GBA) cause the clinical manifestations of Gaucher disease, which is an autosomal recessive lysosomal storage disease that leads to the accumulation of glucocerebroside in tissues.
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