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Carrier Screening

GBA Gaucher Carrier Test

Targeted sequencing of GBA for Gaucher disease carrier status.

Methodology

NGS with Sanger confirmation

Genes analyzed

GBA

Sample type

3 mL EDTA Whole Blood

Turnaround time

7–10 Business Days

Understand the test

What this test is for

Adds Gaucher carrier status to Ashkenazi Jewish and at-risk couple screening.
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Expert oversight

Doctor's clinical note

This test page is presented for education and care coordination. The appropriate use and interpretation of a test should be discussed with a qualified healthcare professional.

Clinical context

Who is this test for?

These examples help explain when this test may be considered. They are not a diagnosis or a substitute for clinical judgment.

A relevant clinical questionA qualified healthcare professional can assess whether this test fits the person’s history, symptoms, or family history.

Interpretation guide

Understanding results

A laboratory result is interpreted alongside personal history, family history, and other clinical information. Your healthcare professional is the right person to explain what your report means.

Pathogenic / likely pathogenicA clinically significant finding may support further evaluation with a qualified healthcare professional.
Benign / likely benignA finding classified as benign is generally not considered to explain a clinical concern on its own.
Variant of uncertain significanceA VUS is not used on its own to confirm or rule out a diagnosis; interpretation may change as evidence develops.

Before your sample

No fasting required unless your kit insert says otherwise. Bring a photo ID and, when applicable, the clinician order and insurance card.

Important limitations

No genetic test detects every possible cause of a condition. A negative, positive, or uncertain result may have different implications depending on the clinical context and test scope.

Common questions

Frequently asked questions

Patients and families should discuss test selection with the healthcare professional responsible for their care. Our team can help with logistics and general test information.

Results are interpreted with personal history, family history, and other clinical information. A qualified healthcare professional should explain the report and next steps.

Further reading

References

Test-specific references will be displayed here after they are added and reviewed by the GGC DNA clinical team.

Continue exploring

This page is for educational and informational purposes only. It does not provide a diagnosis or replace advice from a qualified healthcare professional. Test selection and result interpretation should be discussed with the clinician responsible for your care.