Primary Immunodeficiency — 450+ genetic conditions where recurrent infections are a symptom, not a diagnosis, and where molecular identification of the specific gene unlocks targeted therapy, curative transplant, and gene therapy.
Whole genome sequencing evaluates all 450+ primary immunodeficiency genes simultaneously — from SCID (a neonatal emergency) to CVID (the most common symptomatic PID in adults) — providing the molecular diagnosis that determines curative vs. supportive therapy.
Primary Immunodeficiency Disorders
Primary immunodeficiency disorders (PIDs, also called inborn errors of immunity) encompass over 450 genetically defined conditions affecting the development and/or function of the immune system. The International Union of Immunological Societies (IUIS) classifies PIDs into 10 categories including combined immunodeficiencies (SCID), predominantly antibody deficiencies (CVID, XLA), phagocyte defects (CGD), complement deficiencies, and autoinflammatory conditions. PID prevalence is estimated at 1 in 1,200 — dramatically higher than previously appreciated, with the majority undiagnosed.
Severe combined immunodeficiency (SCID) — caused by variants in IL2RG (X-linked, most common), ADA, JAK3, RAG1/RAG2, IL7R, and others — is a neonatal emergency: affected infants have virtually no functional T cells and die of opportunistic infection within the first year of life without definitive treatment. Newborn SCID screening (via TREC assay) is now performed in all US states, identifying affected infants before the first infection. Hematopoietic stem cell transplantation (HSCT) before 3.5 months of age without prior infection produces >95% survival — making SCID a paradigm of presymptomatic treatment success.
Beyond SCID, the PID spectrum includes common variable immunodeficiency (CVID — the most common symptomatic PID in adults, affecting ~1 in 25,000), X-linked agammaglobulinemia (XLA, BTK), chronic granulomatous disease (CGD, CYBB), and hundreds of rarer conditions. Targeted therapies are emerging: leniolisib (FDA 2023) for activated PI3Kδ syndrome (APDS), gene therapy for ADA-SCID and X-linked SCID, JAK inhibitors for specific PID subtypes. Molecular diagnosis is required for all targeted therapies and is essential for HSCT donor selection and conditioning regimen planning.
Leniolisib (Joenja, FDA 2023) is the first targeted therapy for activated PI3Kδ syndrome (APDS) — caused by PIK3CD or PIK3R1 gain-of-function variants. Molecular confirmation is required for prescribing. WGS identifies all APDS variants.
450+ PID genes cannot be evaluated by any single immunological assay. Immunoglobulin levels and lymphocyte subsets identify immune deficiency but not its genetic cause — molecular diagnosis is required for definitive management.
SCID is curable if diagnosed before the first infection — HSCT before 3.5 months produces >95% survival
The specific SCID gene determines the optimal HSCT conditioning regimen, donor selection, and the feasibility of gene therapy as an alternative. IL2RG-SCID (X-linked) has an active gene therapy program. ADA-SCID has an approved gene therapy (Strimvelis). RAG1/RAG2-SCID requires myeloablative conditioning for engraftment. These gene-specific transplant decisions require rapid molecular diagnosis in the newborn period — ideally within the first weeks of life. WGS provides comprehensive SCID gene evaluation faster than sequential single-gene testing.
CVID affects 1 in 25,000 adults — many carry monogenic variants with specific targeted therapies
CVID was previously considered a diagnosis of exclusion with unknown genetic basis. Genomic studies have identified monogenic causes in 25-30% of CVID patients — including TNFRSF13B (TACI), NFKB1, CTLA4, PIK3CD, PIK3R1, LRBA, and others. Several of these have specific targeted therapies: abatacept for CTLA4/LRBA deficiency, leniolisib for PIK3CD gain-of-function. Patients receiving standard immunoglobulin replacement alone may benefit from additional targeted therapy once their specific genetic cause is identified by WGS.
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 Primary Immunodeficiency Disorders 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
