22q11.2 Deletion Syndrome — the most common chromosomal microdeletion, affecting 1 in 4,000 births, where early diagnosis coordinates cardiac, immunological, endocrine, and psychiatric surveillance that changes outcomes across the lifespan.
Whole genome sequencing detects all 22q11.2 deletion sizes — typical 3Mb, nested 1.5Mb, and atypical breakpoints — providing the molecular diagnosis that standard karyotype misses and chromosomal microarray may undercharacterize.
22q11.2 Deletion Syndrome
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, affecting approximately 1 in 4,000 live births. Previously described as DiGeorge syndrome, velocardiofacial syndrome (VCFS), Shprintzen syndrome, and conotruncal anomaly face syndrome, these are now understood as variable presentations of the same underlying 22q11.2 deletion. The typical deletion spans approximately 3Mb and encompasses roughly 90 genes, including TBX1 — the critical gene responsible for the conotruncal cardiac defects and pharyngeal arch developmental anomalies.
22q11.2DS produces a highly variable phenotype affecting almost every organ system: conotruncal cardiac defects (tetralogy of Fallot, interrupted aortic arch, truncus arteriosus — present in ~75%), thymic hypoplasia/aplasia with T-cell immunodeficiency (~75%), hypocalcemia from hypoparathyroidism (~50%), palatal anomalies (velopharyngeal insufficiency, cleft palate — ~70%), feeding difficulties, developmental delay and learning disabilities (~90%), and characteristic facial features. Approximately 93% of deletions are de novo; 7% are inherited from an affected parent who may have only subtle features.
The most clinically significant late-onset feature is the dramatically elevated risk of schizophrenia and psychotic disorders — approximately 25% of individuals with 22q11.2DS develop schizophrenia by adulthood, representing the strongest known genetic risk factor for this condition (30x population risk). Proactive psychiatric monitoring, early intervention for prodromal symptoms, and family education about psychiatric risk are critical components of lifelong 22q11.2DS management. Additionally, autoimmune conditions (autoimmune cytopenias, juvenile idiopathic arthritis) occur at elevated rates, particularly as the immune system matures.
25% of individuals with 22q11.2DS develop schizophrenia — the strongest known genetic risk factor. Proactive psychiatric monitoring beginning in adolescence enables early intervention during the prodromal phase, which may improve outcomes.
Standard karyotype does not detect 22q11.2 deletions (they are submicroscopic). FISH detects typical deletions but misses atypical breakpoints. WGS detects all deletion sizes and identifies the specific breakpoints.
93% of 22q11.2 deletions are de novo — the first affected child in a family is usually the first clue
Because the vast majority of 22q11.2 deletions arise de novo, there is no family history to prompt genetic testing. The diagnosis depends on clinical suspicion — which is straightforward when a neonate presents with conotruncal cardiac defect plus hypocalcemia, but is much less obvious when the presentation is isolated velopharyngeal insufficiency, learning disability, or psychiatric symptoms. WGS performed for any of these indications will detect the 22q11.2 deletion, triggering the comprehensive multi-system surveillance that identifies all component features before they cause complications.
Each subsequent pregnancy after an affected child has a 50% recurrence risk — but only if the parent's deletion status is determined
7% of 22q11.2 deletions are inherited from an affected parent who may have very mild or unrecognized features. If the proband's parents are not tested, an inherited deletion is assumed de novo — and the family is counseled that recurrence risk is low (<1%). If the deletion is actually inherited, recurrence risk is 50% for each subsequent pregnancy. Parental 22q11.2 testing is mandatory after a child is diagnosed. WGS of the parents detects not only the 22q11.2 region but also identifies any other genetic findings relevant to the family.
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.
Accredited by & published in
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 22q11.2 Deletion 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
Message received.
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
