Hereditary Leukemia — familial predisposition to MDS and AML is more common than previously recognized, and identifying germline variants is critical for bone marrow transplant donor selection because related donors may carry the same predisposition.
Whole genome sequencing evaluates all hereditary leukemia and MDS predisposition genes — GATA2, DDX41, RUNX1, CEBPA, ETV6, ANKRD26, SAMD9, SAMD9L — ensuring that transplant donors are screened and families receive appropriate surveillance.
Leukemia — Hereditary & Familial MDS-AML
Hereditary predisposition to myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) is increasingly recognized as a distinct clinical entity. The WHO and ICC classifications now include 'myeloid neoplasms with germline predisposition' as a formal category. Key genes include GATA2 (haploinsufficiency causing immunodeficiency, lymphedema, and evolution to MDS/AML), DDX41 (the most common germline MDS/AML predisposition gene in adults, often with late onset), RUNX1 (familial platelet disorder with predisposition to AML), CEBPA (familial AML with high penetrance), ETV6 (thrombocytopenia with predisposition to ALL and MDS), and ANKRD26 (thrombocytopenia with MDS/AML risk).
The most critical clinical implication of hereditary MDS/AML diagnosis is bone marrow transplant (HSCT) donor selection. When a patient with MDS/AML requires HSCT, related donors are the preferred source — but if the MDS/AML has a germline cause, siblings have a 50% chance of carrying the same predisposition variant. Using a carrier sibling as a donor risks transplanting a marrow that will itself develop MDS/AML. Multiple cases of donor-derived MDS/AML have been reported when germline predisposition was not recognized. Current NCCN guidelines recommend germline testing of all MDS/AML patients before HSCT to guide donor selection.
GATA2 deficiency deserves special attention — it presents as a syndrome of immunodeficiency (MonoMAC — monocytopenia and mycobacterial infection, or DCML deficiency), lymphedema, and pulmonary alveolar proteinosis BEFORE progressing to MDS/AML. Recognition of the immunodeficiency phenotype enables proactive bone marrow monitoring and pre-emptive HSCT before acute leukemia develops. DDX41 is distinctive for its late onset — often presenting as MDS/AML in the 6th-7th decade, mimicking 'sporadic' MDS. Up to 5% of adult MDS/AML may have germline DDX41 variants.
DDX41 germline variants cause ~5% of adult MDS/AML — often presenting after age 60 and mimicking sporadic disease. Without germline testing, these cases are never identified as hereditary, and at-risk family members remain unscreened.
Germline testing before HSCT is now standard — using a donor who carries the same leukemia predisposition risks donor-derived malignancy. WGS identifies all hereditary MDS/AML genes for safe transplant donor selection.
Donor-derived MDS/AML is preventable — germline testing before HSCT ensures related donors don't carry the same predisposition
Multiple published cases document MDS/AML developing in transplant recipients from germline variant-carrying sibling donors — sometimes years after successful engraftment. These devastating outcomes are preventable through pre-HSCT germline testing of the patient, followed by testing potential related donors. If the patient carries a germline MDS/AML predisposition variant, only non-carrier siblings or unrelated donors should be used. WGS of the patient identifies the germline variant; targeted testing of siblings confirms safe donors.
GATA2 deficiency presents as immunodeficiency before leukemia — early recognition enables pre-emptive HSCT
GATA2 haploinsufficiency produces progressive immunodeficiency (declining monocytes, B cells, NK cells, dendritic cells) that predisposes to severe mycobacterial infections, HPV-associated neoplasia, and pulmonary alveolar proteinosis — often years to decades before MDS/AML. Early GATA2 diagnosis through WGS enables bone marrow monitoring and pre-emptive HSCT while the patient is in a non-malignant state — avoiding HSCT in the setting of active leukemia, which has substantially worse outcomes.
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 Leukemia — Hereditary & Familial MDS-AML 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
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- 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
