Gaucher disease type 1 (carrier)

The GBA gene makes an enzyme that recycles fatty molecules inside cells. The most common Gaucher variant is the leading cause of Gaucher disease type 1, and one copy makes you a carrier.

Possible results

No Gaucher variant. You don't carry the most common Gaucher variant, the leading cause of Gaucher disease (an inherited condition where fatty molecules build up in cells). From what this variant shows you're not a carrier.

Gaucher carrier. You carry one copy of the most common Gaucher variant, which makes you a carrier. Carriers are typically healthy, but if a partner is also a carrier, a child could inherit two copies, so it can be useful to know for family planning. This variant is also a mild Parkinson's risk factor, separate from carrier status.

Two Gaucher variants. You have two copies of the most common Gaucher variant. This is the most common form of Gaucher disease and is often mild or even without symptoms, but it's worth discussing with a doctor, since the condition is manageable and treatments exist.

Evidence & sources

Across global populations, fewer than 1% of people carry two copies of this variant, and about 100% carry none.

Related

Alpha-1 antitrypsin deficiency · G6PD deficiency (favism) · Hereditary hemochromatosis (HFE gene)