Gaucher Disease Carrier Test
Below is a plain-language overview of the gaucher disease carrier test. The Gaucher disease carrier test is a blood test that checks whether a person carries a gene change linked to Gaucher disease, an inherited condition that affects how the body processes certain fats. It is usually ordered when someone has a family history of Gaucher disease or is planning a pregnancy and wants to know their carrier status.
- Sample type
- blood
- Category
- General Wellness
- Turnaround
- 1-3 business days
- Price
- $199
- Referral
- Not required
The Gaucher disease carrier test is a blood test that checks whether a person carries a gene change linked to Gaucher disease, an inherited condition that affects how the body processes certain fats. It is usually ordered when someone has a family history of Gaucher disease or is planning a pregnancy and wants to know their carrier status.
What it measures
- GBA gene variants — Specific changes in the GBA gene that can cause Gaucher disease when two are present.
- Common variant panel — A set of the most frequently seen GBA changes in the general population.
- Sequencing (if needed) — Reading the full GBA gene to find less common changes when panel results are unclear.
- Deletion/duplication analysis — Checks for missing or extra pieces of the GBA gene that standard testing might miss.
Who it is for
This test is typically ordered by a primary care clinician, genetic counselor, or obstetrician for adults with a family history of Gaucher disease or those considering pregnancy.
Preparation
No fasting or special preparation is required. A standard blood draw is all that is needed, and timing does not affect the result.
Results and what they mean
Results are reported as positive (a gene change found) or negative (no common gene changes found), sometimes with a note about variants of uncertain significance. A positive result means you are a carrier, not that you have the disease. Only a clinician or genetic counselor can interpret your result in the context of your family and health history. This is general information, not medical advice.
How to order this test
- Choose the test and place a confidential order online.
- Select a certified collection site and pick a time that suits you.
- Have your specimen collected — most draws take only a few minutes.
- Review results in a secure portal, typically within 1–3 days.
Preparation, hours, and pricing vary by site; confirm details directly with the lab before your visit.
Availability by state
Direct-access online ordering for the gaucher disease carrier test is available in most states. It is currently unavailable in 6 states:
Everywhere else you can order confidentially and collect your sample at a certified site. Browse by state →
Frequently asked questions
Does a positive result mean I have Gaucher disease?
No. Carriers have one changed copy of the GBA gene and usually do not develop the disease. A person must inherit two changed copies, one from each parent, to be affected.
Can this test tell me if my partner is also a carrier?
No, this test only checks your status. If you are a carrier, your partner may consider testing to understand the chance of having an affected child.
How long do results take?
Most results are ready in 1 to 3 business days, though some cases may take longer if additional testing is needed.
Is my genetic information kept private?
Yes. Genetic test results are handled as confidential medical information and are protected by privacy laws.