Testing Info
We’re glad you found us. On average, it takes nearly seven years for people with APBD to receive the correct diagnosis (Hellman, 2015). At the APBD Research Foundation, our mission is to shorten this diagnostic journey and help individuals get the answers and support they need – sooner.
Diagnostic Testing
If you suspect APBD, talk to your healthcare provider about genetic testing. A test that sequences the GBE1 gene can identify two pathogenic variants, confirming an APBD diagnosis.
If you have a family member with APBD, bring a copy of their genetic test report (if available) to your healthcare provider. It is important to bring a copy of their genetic test report, because it can help guide which genetic test is right for you. If your provider is unsure which test to order, our Genetic Counselor and Scientific & Research Coordinator can help – reach out at info@apbdrf.org
If your genetic test results are unclear but your doctor still suspects APBD, additional testing – such as further specialized genetic tests or tissue analysis – may be needed.
If you test positive for APBD, you may experience a mix of emotions – uncertainty, concern, or even relief in finally having answers. You are not alone. The APBD Research Foundation is here to support you with guidance, resources, and a compassionate community to help you navigate this journey. We encourage you to reach out at info@apbdrf.org to learn more about joining our patient registry, natural history study, and our collective fight to find a cure.
Carrier Screening
Carrier screening is a genetic test that checks whether a person carries a variant in the GBE1 gene. Carriers have one working copy and one non-working copy of this gene. While carriers do not develop APBD, they can pass the non-working gene to their children. The most common GBE1 variant is found in about 1 in 49 people of Ashkenazi Jewish descent.
If a parent has APBD, their children are definitely carriers because they will inherit at least one non-working copy of the gene.
If both parents are carriers, there is a 25% (1 in 4) chance with each pregnancy that their child will inherit two non-working copies of the gene and develop APBD.