Lab test
Gaucher Disease Carrier Test – Ashkenazi
Below is a plain-language overview of the gaucher disease carrier test – ashkenazi. This blood test checks whether a person carries a gene change linked to Gaucher disease, which is more common in people of Ashkenazi Jewish ancestry.
Lab requirements in Gaucher Disease Carrier Test – Ashkenazi
Here is what you need before ordering and completing the Gaucher Disease Carrier Test – Ashkenazi. Review each item and confirm the details with the collection lab.
- Physician's order
- Included. A physician's order is required for lab testing and is provided for you by our partner's physicians — no referral from your own doctor is needed.
- Fasting
- Some tests require fasting or avoiding certain foods or drinks beforehand. You will be informed when you order — confirm the details with the collection lab.
- Preparation
- No special preparation is usually needed for this blood test. Follow the collection lab's instructions about eating, drinking, or medications.
- Sample & visit
- A blood and/or urine sample is collected; the visit usually takes about 10 minutes.
- Identification
- Bring the lab requisition form from your account. The collection lab may also ask for a government-issued photo ID.
- Turnaround
- 1-3 business days
- Availability
- Our partner lab does not serve ND, RI, NY, NJ, MD or HI. Confirm availability for your location with the collection lab.
Before you go
- Order your test before visiting a lab, then use the requisition form in your account.
- Print the requisition form, or fax it to the lab directly from your account.
- No scheduling is needed — visit the collection lab during its normal business hours.
- A blood and/or urine sample is collected; the visit usually takes about 10 minutes.
- Bring a government-issued photo ID in case the lab requests it.
- Results are posted to your secure account within 1–3 business days.
Requirements are summarized from our partner lab's published policies. Preparation and availability can change — confirm current instructions with the collection lab before your visit.
What this test is
The Gaucher disease carrier test looks for changes in the GBA gene that can cause Gaucher disease. Being a carrier means a person has one changed copy of the gene but usually does not have symptoms. This test is designed for people with Ashkenazi Jewish ancestry, where the carrier rate is higher.
What it measures
- GBA gene variants — Reflects whether specific changes linked to Gaucher disease are present
- Carrier status — Indicates if one changed copy of the gene was found
- Residual risk — A lab-specific estimate of the chance a carrier is missed
What the test involves
A small sample of blood is collected from a vein in the arm using a standard blood draw. The sample is then sent to a laboratory for genetic analysis.
Why it is often ordered
A clinician may order this test to find out if a person carries a gene change that could be passed on to children. It is often considered before or during pregnancy, or when there is a family history of Gaucher disease.
Preparation
No special preparation is usually needed for this blood test. Follow the collection lab's instructions about eating, drinking, or medications.
How results are reported
Results are reported as either carrier detected or carrier not detected, based on the gene changes the lab looks for. Reference ranges and the specific changes tested can vary by laboratory, so your clinician will interpret the result in context.
Before you go
- Whether any special preparation is needed before the blood draw
- How long results usually take at that lab
- Which specific gene changes the test covers
FAQ
Frequently asked questions
What does it mean to be a carrier of Gaucher disease?
A carrier has one changed copy of the GBA gene and one typical copy. Carriers usually do not develop Gaucher disease, but they can pass the changed gene to their children.
Can this test tell me if I have Gaucher disease?
No, this test is designed to detect carriers. It looks for common gene changes but does not diagnose the disease itself. A clinician would use other tests to evaluate symptoms.
Why is this test offered to people of Ashkenazi Jewish ancestry?
Gaucher disease is more common in people with Ashkenazi Jewish ancestry. Screening can help identify carriers so they can make informed decisions about family planning.
How long do results take?
Results are typically available within a few business days after the lab receives the sample. The exact time can vary depending on the laboratory and the test method used.
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