Genetic Testing for Gaucher Disease
Planning ahead starts with knowing your risk.
Gaucher disease can stay hidden for decades, sometimes going unnoticed until severe symptoms finally prompt a diagnosis.¹ It is the most common inherited disorder among people of Ashkenazi Jewish descent.² You can find out your risk of passing it on to your offspring with Gaucher disease carrier testing.
What is Gaucher Disease?
Gaucher disease keeps the body from properly breaking down a fatty substance called glucocerebroside, which then builds up in the spleen, liver, bone marrow, and in some cases the nervous system.³ Gaucher disease Type 1 is the most common form and mainly affects the spleen, liver, blood, and bones. Types 2 and 3 are more rare and involve the nervous system, with type 2 appearing in infancy and progressing quickly, and type 3 developing more gradually in childhood.³ In the general population, Gaucher disease affects roughly 1 in 100,000 people.⁴
GBA1
GBA1 is the gene associated with Gaucher disease. Most cases happen when a person inherits a missing or nonworking copy of GBA1 from each parent, which leaves the body without enough of the enzyme needed to break down glucocerebroside.³ Having just one missing or non-working copy renders an individual a “carrier”. When two carriers conceive a pregnancy, there is a 25% chance with each pregnancy that the child is affected by Gaucher disease.
Why Test For Gaucher Disease Before Pregnancy?
Knowing that you and your partner are carriers of Gaucher disease helps with treatment options if your child is ultimately diagnosed with the condition. Treatments like Enzyme replacement therapy and substrate reduction therapy are available for Gaucher disease, and for type 1 in particular, they can meaningfully reduce many of the disease's effects on the spleen, liver, blood, and bones.⁵ Infants and young children who start treatment early tend to do better than those diagnosed and treated later, and exhibit improved growth, blood counts, and organ size over time.⁶ Only a handful of states currently require Gaucher disease to be part of routine newborn screening, so many babies born with it aren't identified right away unless parents already know their carrier status.⁴
Gaucher disease is inherited in an autosomal recessive pattern . As mentioned above, a carrier has one working copy of the gene and one nonworking copy, and carriers are not affected by Gaucher disease itself because the one working copy is sufficient to avoid symptoms.³ If both parents are carriers, each pregnancy has a 25% chance of the child inheriting two nonworking copies of the gene, one from each parent, and being affected by Gaucher disease, There is also a 50% chance of the child being an unaffected carrier like the parents, and a 25% chance of the child inheriting neither.³
Your Odds of Carrying the Gaucher Gene
Between 1 in 14 and 1 in 18 Ashkenazi Jews carry a mutation in the gene that can cause Gaucher disease, making it the most commonly inherited condition in this population.²
Gaucher disease can be found in every population, but it is dramatically more common among those of Ashkenazi Jewish descent because of a phenomenon called the founder effect. Outside of the Ashkenazi population, Gaucher disease is far less common, affecting roughly 1 in 100,000 people overall.⁴
While carriers of Gaucher disease themselves aren't affected by the condition, research has shown that being a carrier can lead to a modestly higher lifetime chance of developing Parkinson's disease later in life, up to about a 15% lifetime risk.⁷ However, most carriers will never develop Parkinson's. A genetic counselor can walk you through what this risk actually means for you personally if it is relevant to you.
Is Gaucher Disease Testing Right for You?
A Gaucher disease genetic test is especially relevant for anyone with Ashkenazi Jewish ancestry, but it is appropriate for those of all ethnicities and backgrounds. Here are some reasons to prioritize accessing carrier screening for Gaucher disease:
You Have Ashkenazi Jewish Ancestry
Since it is so common to carry Gaucher disease in this population, Ashkenazi Jewish ancestry is often reason enough to get tested, regardless of family history.
You're Planning Ahead of Pregnancy
Because Gaucher disease isn't part of newborn screening in most states, knowing your carrier status before conceiving is often the only way to find out early.⁴
Your Partner Has Already Tested Positive
If your partner knows they carry a mutation in the gene associated with Gaucher disease, carrier screening tells you whether your child could be at risk.
You're Using a Sperm or Egg Donor
Donor gametes carry the same genetic considerations as a partner would, so testing applies here too.⁸
A Relative Has Been Diagnosed With Gaucher Disease
If Gaucher disease runs in your family, your own chance of carrying the gene change is higher than average, and testing for your partner and other relatives can help the whole family understand their personal and reproductive risks.
One Family's Experience
Rabbi Jennifer Kaluzny and her husband Ryan discovered through carrier screening that they were both carriers for the same Gaucher disease mutation. Their story follows the path they took to grow their family while lowering the risk of passing on the disease.
How the Screening Process Works
Simple, from Home to Results
Order Your Kit
Register online and receive a saliva collection kit shipped directly to your home within a few days.
Collect Your Sample
Provide a simple saliva sample at home, following the easy step-by-step instructions included in your kit.
Lab Analysis
Your sample is analyzed at a CLIA-accredited laboratory using advanced sequencing technology across the full gene panel.
Receive Results
Receive your results within 3 to 4 weeks. You can choose to schedule a complimentary consultation with a certified genetic counselor to review your findings.
Costs and Insurance Coverage
Insurance Billing
Self-Pay Option
Understand Your Genetic Test Results
Negative Result
The GBA1 gene sits right next to a nearly identical piece of DNA called a pseudogene, which is not associated with Gaucher disease, but can be mistaken for the real gene during testing. This overlap makes some GBA1 changes harder to detect than in most other genes on a carrier panel, and it is a well documented technical challenge in the field.⁹ This is part of why a negative result lowers your risk significantly without bringing it all the way to zero.
A negative result means you have a significantly lower chance of being a carrier for Gaucher disease. It does not eliminate your risk entirely, since no screen can detect every possible gene change.
Positive (Carrier) Result
A positive result means you carry one working copy and one nonworking copy of GBA1. You are not affected by Gaucher disease and never will be, but you can pass the nonworking copy to a child. If you're planning a pregnancy, it is very important for your partner to also be screened, since your child's risk depends on whether your partner carries a change in the same gene.
If You and Your Partner Are Both Carriers
If both partners carry a gene change in GBA1 that renders it non-working, each pregnancy has a 25% chance of being affected by Gaucher disease. If a pregnancy is already ongoing, prenatal testing is available. Chorionic villus sampling, usually done around 10 to 13 weeks of pregnancy, or amniocentesis, usually done a bit later, can diagnose whether a current pregnancy is affected.¹² Genetic counseling is strongly recommended at this stage, and every jscreen result comes with access to a board certified genetic counselor to walk through what your specific results mean and what your options are. We strongly recommend testing prior to conception, which allows for the greatest range of reproductive options.
Take the Next Step for Your Family's Health
Frequently Asked Questions
How do you test for Gaucher disease?
Gaucher disease genetic testing looks for changes in GBA1, the gene associated with the condition. It is done with a simple saliva or blood sample rather than any kind of invasive procedure, and it can tell you whether you carry a change in the gene, regardless of whether you have any symptoms yourself.
How to test for Gaucher disease from home?
With a genetic carrier test via jscreen, the whole process happens without a clinic visit. You can order a kit online, provide a saliva sample using the instructions included, and mail it back using the prepaid materials in the kit. Your sample is analyzed at a CLIA-accredited laboratory, and results are typically available within 3 to 4 weeks.
What is a Gaucher disease type 1 genetic test looking for?
This sort of testing scans the GBA1 gene for any gene mutations that are known to render the GBA1 gene non-working. If an individual inherits two such copies, this causes Gaucher disease. A small number of specific changes account for the large majority of type 1 cases in people of Ashkenazi Jewish descent, though testing will typically screen for a broader set of changes to catch cases outside that population as well.²
Are there prenatal tests for Gaucher disease?
Yes. If both partners are found to be carriers, prenatal testing for Gaucher disease, such as chorionic villus sampling or amniocentesis, can directly check whether a current pregnancy is affected, rather than waiting until birth.¹²
What does a negative Gaucher disease carrier testing result mean?
It means you're unlikely to carry a change in GBA1, but it doesn't rule it out completely. GBA1 testing has a known technical limitation due to a nearby pseudogene that can occasionally be mistaken for the real gene, so a negative result lowers your risk significantly without eliminating it.⁹
Do I need genetic counseling after Gaucher disease genetic testing?
It isn't required, but it's strongly recommended, especially if your result is positive. The carrier screen includes access to a complimentary consultation with a board certified genetic counselor, who can explain what your specific results mean and what your options are going forward.
What happens if my partner and I are both carriers of Gaucher disease?
Each pregnancy would have a 25% chance of being affected by Gaucher disease. At that point, most people work with a genetic counselor to talk through their options, which can include prenatal diagnostic testing during a current pregnancy, or other family planning approaches if you haven't conceived yet.¹²
Explore More Resources
References
- Kaplan I, et al. Recognizing Gaucher Disease in the Fifth Decade and Beyond: A Retrospective Case Study in Patients of Ashkenazi Jewish Descent. Rare Dis Orphan Drugs J. Published December 8, 2025. Accessed August 4, 2026. https://www.oaepublish.com/articles/rdodj.2025.54
- Gaucher Disease Epidemiology. Rare Disease Advisor. Published October 30, 2025. Accessed August 4, 2026. https://www.rarediseaseadvisor.com/disease-info-pages/gaucher-disease-epidemiology/
- Gaucher Disease. GeneReviews. National Center for Biotechnology Information, Genome.gov Bookshelf. Updated December 7, 2023. Accessed August 4, 2026. https://www.ncbi.nlm.nih.gov/books/NBK1269/
- Kleinman M. Gaucher Disease in Illinois: Screening, Detecting and Treating. City of Hope. Published September 24, 2025. Accessed August 4, 2026. https://www.cityofhope.org/hope-matters-blog/gaucher-disease
- Gaucher Disease Treatment. Rare Disease Advisor. Published October 30, 2025. Accessed August 4, 2026. https://www.rarediseaseadvisor.com/disease-info-pages/gaucher-disease-treatment/
- Goker-Alpan O, Ivanova MM, Pathak R, Wright E. Enzyme Replacement Therapy in Infants and Very Young Children With Gaucher Disease Using Velaglucerase Alfa: A Single Center Experience. Front Pediatr. Published October 17, 2025. Accessed August 4, 2026. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12575321/
- Gaucher Disease and GBA Related Conditions. Norton and Elaine Sarnoff Center for Jewish Genetics. Published October 16, 2023. Accessed August 4, 2026. https://www.jewishgenetics.org/genetic-disorders/search-genetic-disorders/gaucher-disease/
- Carrier Screening for Family Planning. Mayo Clinic Health System. Published June 23, 2023. Accessed August 4, 2026. https://www.mayoclinichealthsystem.org/hometown-health/speaking-of-health/carrier-screening-for-family-planning
- Woo EG, Tayebi N, Sidransky E. Next Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles. Front Genet. Published June 21, 2021. Accessed August 4, 2026. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8255797/
- Variant of Uncertain Significance (VUS). Genetics Glossary. National Human Genome Research Institute. Genome.gov. Accessed August 4, 2026. https://www.genome.gov/genetics-glossary/Variant-of-Uncertain-Significance-VUS
- Variants of Uncertain Significance, How to Think About Them. Personalized Integrative Care. Published November 19, 2025. Accessed August 4, 2026. https://www.surrogacy4all.com/variants-of-uncertain-significance-how-to-think-about-them
- Gaucher Family Planning: Genetic Counseling and Screening. Gaucher Disease News. Published December 18, 2025. Accessed August 4, 2026. https://gaucherdiseasenews.com/gaucher-disease-family-planning-genetic-counseling/