Gaucher Disease (Type 1) DNA Test

Are you a genetic carrier for Gaucher disease? Find out with this DNA Test.

  • Detects three GBA variants which cause Gaucher disease type I
  • Characterized by the accumulation of glucocerebroside in organs and tissues, leading to tissue damage
  • Carrier screening test intended for couples who are planning to become pregnant
  • 100% private and confidential online results

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Detailed Description

Gaucher disease is caused by the accumulation of a fatty substance (glucocerebroside) in organs and tissues, leading to tissue damage. There are three major clinical subtypes (1, 2 and 3) of Gaucher disease.

Type 1 Gaucher disease is the least severe and most common form, particularly in people of Ashkenazi Jewish heritage. It is caused by genetic variants in the GBA gene. Approximately 1 in 18 people of Ashkenazi Jewish heritage carry a defective GBA gene, and are carriers of Gaucher disease. In Ashkenazi Jewish populations the prevalence of Gaucher disease is 1 in 855.

Take this test to find out if you are a genetic carrier of a GBA variant and are at risk of passing it to your children.

The Genetics

This test detects three variants in the GBA gene. This gene provides instructions for the beta-glucocerebrosidase enzyme, which normally breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Affected individuals produce an enzyme with either reduced or no activity, leading to a toxic accumulation of glucocerebroside and other related substances, causing tissue and organ damage.

Gaucher disease is an autosomal recessive disorder, meaning that an individual must inherit two defective copies of the GBA gene for symptoms to occur.

Variants Tested

This test detects three genetic variants in the GBA gene, which account for 90% of Gaucher disease-associated variants in Ashkenazi Jewish individuals, but only 50%-60% of Gaucher disease-associated variants in other populations.

  • rs76763715 C (N370S)
  • rs387906315 C (84insG)
  • rs80356769 T (V394L)

Understanding your carrier status for these variants will help you understand the risk of passing a variant to your children.

Signs and Symptoms

Type 1 Gaucher disease is a non-neuronopathic form as it does not affect the brain and spinal cord, but does affect other tissues and organs. Symptoms include:

  • Hepatosplenomegaly (enlargement of the liver and spleen)
  • Anemia (decreased red blood cell count)
  • Lung diseases
  • Excessive bruising due to low platelet numbers (thrombocytopenia)
  • Reduced bone mass (osteopenia)
  • Eroded or thickened areas of bone (focal lytic or sclerotic lesions)
  • Breaking down of the bone (osteonecrosis)
  • Arthritis
  • Deep bone pain (bone crises)

How It Works

Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.