Gaucher Disease

Biochemistry Blood Sciences Test

Specimen Type

EDTA sample

Special pre-analytical handling requirements:

None

Reference ranges and test units

Age and sex appropriate reference ranges and units are reported with all clinical results.

Test Use

Gaucher disease (β-glucosidase deficiency) is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of the glycolipid glucocerebroside, throughout the body but especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from patient to patient. Some individuals are asymptomatic; others may have serious complications.

There are three distinct forms of Gaucher disease separated by the absence (type 1) or presence and extent (type 2 or type 3) of neurological complications.

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