Diagnosis of Gaucher’s Disease

Measurement of specific enzyme level and genetic analysis are employed to diagnose Gaucher’s disease.

Enzyme Analysis:

Patients with Gaucher’s disease have low levels of glucocerebrosidase. Carriers (i.e. those who do not have the disease but carry the gene responsible for Gaucher’s) have an intermediate enzyme level (i.e. between normal level and the level found in patients).

Genetic analysis:

This is not a definitive test since it searches only for the four most common mutations and few others. More than 300 genetic mutations are known to be associated with Gaucher’s disease.

Apart from these tests, imaging modalities are also employed:

Dual energy X-ray absorptiometry (DXA): This test is used to measure bone density.

CT-scan, MRI-scan, Ultrasound scan, and X-ray scans are routinely employed.