An enlarged spleen. Thinning bones. Fatigue that doesn't resolve. The enzyme responsible works at a fraction of its capacity — and identifying the variant unlocks targeted treatment.
Whole genome sequencing identifies GBA variants that cause lysosomal accumulation — enabling enzyme replacement or substrate reduction therapy tailored to your genetic subtype.
Gaucher Disease
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by GBA mutations, which encode glucocerebrosidase — the enzyme that breaks down glucocerebroside into glucose and ceramide. Loss-of-function GBA variants impair this breakdown, causing glucocerebroside to accumulate in macrophages and other cells, creating characteristic lipid-laden Gaucher cells. The disease manifests in three clinical types: Type 1 (non-neuronopathic, ~95% of cases) features hepatosplenomegaly, anemia, thrombocytopenia, and progressive bone disease; Type 2 (acute neuronopathic, rare) is fatal by age 2–4; and Type 3 (chronic neuronopathic) shows progressive neurological decline alongside organ involvement.
Gaucher disease affects approximately 1 in 40,000 to 1 in 60,000 individuals globally, though prevalence is dramatically higher in Ashkenazi Jewish populations (~1 in 850). Over 400 GBA variants have been identified. Four Ashkenazi founder mutations — N370S, 84GG, L444P, and IVS2+1G>A — account for approximately 96% of alleles in that population. Genotype predicts severity: Type 1 (non-neuronopathic) variants typically retain residual enzyme activity (~10–30%), while Type 2/3 (neuronopathic) variants reduce activity more profoundly or produce misfolded enzyme. Interestingly, heterozygous GBA carriers (approximately 1–3% of the general population) have a 5–10-fold increased risk of Parkinson's disease, revealing an unexpected link between lysosomal dysfunction and neurodegeneration.
A confirmed GBA pathogenic variant diagnosis enables enzyme replacement therapy (imiglucerase, velaglucerase alfa) or substrate reduction therapy (eliglustat for Type 1, miglustat for Types 1 and 3) — both FDA-approved and directly targeting the molecular consequence of GBA loss. Type 1 (non-neuronopathic) variants typically respond well, with therapies reducing hepatosplenomegaly, improving hematologic parameters, and halting bone disease progression. Type 2 (acute neuronopathic) does not currently have effective disease-modifying treatments. Type 3 shows variable response to enzyme replacement. Treatment efficacy correlates with genotype: N370S (milder) typically responds better than L444P (more severe). Genetic diagnosis enables early treatment initiation, preventing irreversible organ and bone complications.
GBA genotype predicts clinical type and treatment response — Type 1 variants typically respond well to enzyme replacement or substrate reduction therapy, while Type 2 remains untreatable and Type 3 shows variable response.
GBA testing is technically challenging due to pseudogene contamination. Over 400 variants exist, and standard sequencing frequently produces ambiguous results.
GBA sequencing requires specialized techniques to distinguish true variants from pseudogene artifacts
GBA sequencing is technically challenging because the GBA gene has a pseudogene (GBAP1) on chromosome 1 that shares 96% sequence identity. Standard short-read sequencing frequently misaligns GBA and GBAP1 sequences, producing ambiguous or incorrect results. Large deletions or complex rearrangements may not be detected by exome sequencing alone. Over 400 GBA variants have been identified, many population-specific. Specialized GBA testing with careful bioinformatic annotation and long-read sequencing capabilities is essential for diagnostic accuracy. Whole genome sequencing with appropriate bioinformatic controls can capture GBA variants while controlling for pseudogene contamination.
Genotype-based treatment selection improves outcomes significantly
A confirmed GBA pathogenic variant enables enzyme replacement therapy (imiglucerase, velaglucerase alfa) or substrate reduction therapy (eliglustat, miglustat) — FDA-approved drugs that directly target glucocerebroside accumulation. Treatment response correlates with genotype: Type 1 (non-neuronopathic) variants typically respond well, with rapid reduction in hepatosplenomegaly and improvement in hematologic and bone parameters. Milder variants (N370S) typically respond better than more severe variants (L444P). Early treatment initiation prevents irreversible organ and bone complications. GBA heterozygous carriers identified through cascade screening may benefit from enhanced neurological surveillance for Parkinson's disease risk.
Your full DNA (not just a part of it)
Traditional genetic testing looks at narrow sets of genes, missing most parts of your genome. We sequence your full genome — every gene and every region between genes.
Comprehensive insights and specialized reports
Easy to read and with answers you and your doctor can act on. Not a file to interpret — 200+ clinical reports, organized by category.
Your test becomes more valuable every year
Your DNA does not change, but genome science is accelerating. Every month, new variant-disease associations are discovered. We validate these findings and update your reports automatically. Your test becomes more valuable every year.
The results doctors bring to their hardest cases.
Forty years of uncertainty. One test.
A patient had spent decades in the UK healthcare system without a diagnosis. Dante data, accepted by NHS clinical teams at Queen Elizabeth University Hospital Glasgow, identified Noonan Syndrome and a RUNX1 leukemia-associated variant that had gone undetected. After 40 years, they finally had an answer.
A complete read delivers a complete picture.
A patient came to Dante to investigate periodic paralysis. Reading the complete genome identified a concurrent hereditary cardiac finding — Brugada syndrome — that their doctor confirmed with an ECG. The result also explained a family member's unresolved cardiac history. One test. Every answer in it.
Sequenced in 2019. The data worked in 2021.
Jennifer sequenced her genome with Dante two years before her breast cancer diagnosis. When treatment began, Dante's pharmacogenomics data showed her prescribed chemotherapy would cause serious adverse effects. Her doctor selected an alternative — and she started effective treatment from day one.
Every genetic question deserves a complete answer.
Whether you are searching for answers today or protecting your health for tomorrow, a complete read of your entire genome is the only place to start.
It runs in your family. Now you can know if it runs in your genes.
Your genome contains inherited variants associated with medical conditions like cardiac, cancer, and neurological. We read all of them — with the clinical depth to give the result meaning.
Learn more →When traditional lab tests say you're fine. And you know you're not.
Standard diagnostic tests check for a pre-selected set of answers. We sequence your full DNA — including parts that no test was designed to check. If the answer is in your genome, we will help you find it.
Learn more →Your diagnosis may be right. Your treatment plan may be incomplete.
Your genes determine which treatments are most likely to work — and which are not. We give your doctor the tools and insights to inform your treatment plan.
Learn more →You want to know before something forces the question.
Some people don't wait for a diagnosis or a family history to act. Whole genome sequencing gives you the complete genetic picture now — so you and your doctor can make informed decisions before anything becomes urgent.
Learn more →You already took a DNA test. Here's what it couldn't tell you.
Most consumer DNA tests read less than 0.1% of your genome. We read all of it.
Learn more →Clinical-grade results. Chosen by individuals, trusted by doctors for their most complex cases.
Dante Genome Test helped specialists at a UK national acute hospital in the identification of Noonan Syndrome and a rare leukemia-associated genetic variant that had gone undetected. That result changed the medical care of the patient.
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Common questions about whole genome sequencing.
What is the difference between whole genome sequencing and a targeted genetic test?
Targeted genetic tests — including standard hereditary cancer panels — read a pre-defined list of known variants in a specific set of genes. They are designed to find what they already know to look for. Whole genome sequencing reads your entire genome: all 6 billion base pairs, every gene, every region between genes. A Mayo Clinic study published in JAMA Oncology found that standard testing guidelines missed more than half of patients with inherited cancer mutations. Genome Test does not have a fixed list.
What will I receive when my results are ready?
Your Dante Genome delivers 200+ physician-ready reports organized by clinical category — hereditary cancer, cardiac conditions, rare diseases, pharmacogenomics, carrier status, and more. Reports are delivered to your secure Genome Manager and are formatted for direct clinical use. Your genome data is permanently retained and re-analyzed automatically as science advances.
What happens if a clinically significant variant is found?
If a pathogenic or likely-pathogenic variant is identified, it will be clearly flagged in your physician-ready report with clinical context, published evidence, and recommended next steps. We recommend sharing any clinically significant finding with your physician or a genetic counselor, who can guide decisions about surveillance, risk reduction, or cascade testing for family members.
How is this different from a consumer DNA test like 23andMe or AncestryDNA?
Consumer DNA tests use genotyping chips that read less than 0.1% of your genome — a tiny pre-selected set of common variants. They are optimized for ancestry and population-level traits, not clinical genetic findings. The Dante Genome Test sequences 100% of your genome at 30X coverage, the same standard used in clinical diagnostic settings. The two tests are not comparable in scope, methodology, or clinical utility.
How long does it take to get results, and how are they delivered?
Your collection kit ships within 48 hours of ordering. Once your sample arrives at our CLIA-certified laboratory, sequencing and analysis takes 6–8 weeks. Results are delivered securely to your Genome Manager, where you can access your reports, share them with your physician, and receive automatic updates as new findings are validated against your genome.
We work with patient advocacy groups worldwide.
Dante Labs works with patient advocacy groups of any size — for Gaucher Disease and other conditions, rare and common. We support groups in any country, including virtual patient advocacy groups.
We can provide customized reports, group discounts, and packages tailored for your members. Please reach out using the form and we'll be in touch within two business days.
- Custom genomic reports for your members
- Group discounts and tailored packages
- Any country — including virtual groups
- Rare and common conditions covered
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One test.
A lifetime of answers.
One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. 200+ physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.
Ships within 48 hours · Results in 6–8 weeks
