Bloom Syndrome — the highest cancer predisposition of any known genetic disorder, with mean cancer onset at age 24, where carrier screening in Ashkenazi Jewish populations can prevent affected births through informed reproductive planning.
Whole genome sequencing reads the complete BLM gene — identifying the Ashkenazi founder mutation (BLMAsh) and all rare non-Ashkenazi alleles — for accurate carrier screening regardless of ancestry.
Bloom Syndrome
Bloom syndrome (BS) is an autosomal recessive chromosomal instability disorder caused by pathogenic variants in BLM (chromosome 15q26.1), encoding BLM RecQ-like helicase — a DNA helicase essential for maintaining genomic stability during DNA replication. BLM deficiency leads to dramatically elevated rates of sister chromatid exchange (SCE), a cytogenetic hallmark that is diagnostic when present at 10x normal levels. The increased chromosomal instability produces proportionally elevated somatic mutation rates across all tissues, resulting in the highest cancer predisposition of any known single-gene disorder.
Bloom syndrome is characterized by prenatal and postnatal growth deficiency (adult height typically <150cm), sun-sensitive facial erythema (often misdiagnosed as lupus), immunodeficiency with recurrent infections, and infertility in males. The defining clinical feature is dramatically elevated cancer risk across virtually all tissue types — leukemia and lymphoma in childhood, and carcinomas of the breast, colon, and skin in adulthood. The mean age of first cancer diagnosis is approximately 24 years. Approximately 50% of affected individuals develop cancer, and many develop multiple independent primary cancers.
In the Ashkenazi Jewish population, a single founder mutation — c.2207_2212delinsTAGATTC (BLMAsh) — accounts for nearly all BS alleles. The carrier frequency is approximately 1 in 100-110 Ashkenazi Jews, making BLM one of the high-priority genes in Ashkenazi carrier screening panels alongside HEXA (Tay-Sachs), ASPA (Canavan), FANCC (Fanconi anemia), GBA (Gaucher), and others. Outside the Ashkenazi population, BS is rare (approximately 1 in 50,000-100,000), with a heterogeneous spectrum of BLM variants.
Single-variant Ashkenazi panels detect BLMAsh but miss the rare BLM alleles that cause Bloom syndrome in non-Ashkenazi populations. Complete BLM gene sequencing is required for accurate pan-ethnic carrier screening.
Cancer surveillance in Bloom syndrome requires a unique protocol — no other condition has this breadth of cancer risk
Bloom syndrome produces cancer risk across essentially all tissue types — leukemia, lymphoma, carcinoma of the breast, colon, skin, lung, cervix, and others. No existing cancer screening protocol was designed for this breadth of risk. The Bloom Syndrome Registry at Weill Cornell Medical College maintains the world's longitudinal data and recommends intensive multi-cancer surveillance beginning in early childhood. Confirming the BLM molecular diagnosis is required to enroll in the Registry and to access the condition-specific surveillance recommendations that may detect cancers at earlier, more treatable stages.
Non-Ashkenazi carriers exist but are invisible to standard Ashkenazi screening panels
Standard Ashkenazi carrier screening tests for the single BLMAsh founder mutation. In mixed-ancestry couples — one Ashkenazi partner, one non-Ashkenazi — this approach has a blind spot: the non-Ashkenazi partner may carry a rare BLM variant not included on the panel, testing falsely negative. The couple receives incorrect reassurance. Whole genome sequencing reads the complete BLM coding sequence in both partners regardless of ancestry, providing equivalent sensitivity for all BLM pathogenic variants and eliminating the ancestry-dependent gap in standard screening panels.
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 Bloom Syndrome 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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We'll be in touch within 2 business days. To follow up directly: hello@dantelabs.com
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
