Questa - NM

Gaucher Disease Carrier Test - Ashkenazi Without an Appointment in Questa

This test screens for carrier status of Gaucher disease, an inherited lysosomal storage disorder that is more common in people of Ashkenazi Jewish descent. Gaucher Disease Carrier Test - Ashkenazi testing in Questa, NM: order online, visit a patient service center near you, and review your results in a secure account.

Typical price

From $199

Results

1-3 business days

Preparation

See preparation notes below

This test screens for carrier status of Gaucher disease, an inherited lysosomal storage disorder that is more common in people of Ashkenazi Jewish descent. It analyzes mutations in the GBA gene that reduce the activity of an enzyme involved in breaking down certain fats. Carriers usually have no symptoms but can pass a mutation to a child. Clinicians order it for reproductive planning and family-risk assessment.

• GBA gene mutations (including N370S, 84GG, L444P, IVS2+1) Genetic markers used to identify Gaucher disease carriers and affected individuals.

• People of Ashkenazi Jewish descent planning a pregnancy.
• Individuals with a family history of Gaucher disease.
• Couples considering reproductive carrier screening.
• People with a partner known to be a Gaucher carrier.
• Anyone with symptoms prompting evaluation for a storage disorder.

• No fasting is required for Gaucher carrier testing.
• Take usual medications unless told otherwise.
• Share family history and reproductive plans.
• A blood or saliva sample may be used.
• Genetic counseling is advised before and after testing.

A detected GBA mutation indicates carrier status, meaning the person usually has no symptoms but can pass the mutation on. If both partners carry GBA mutations, the chance of an affected child is higher. Because results can have family-planning implications, they are best reviewed with a genetic counselor. Discuss the findings with a healthcare provider and genetic counselor.

See Gaucher Disease Carrier Test - Ashkenazi across New Mexico