You carry a CFTR variant and didn't know. Now, planning a family, the answer matters more than ever.
Whole genome sequencing identifies all known CFTR variants — enabling carrier screening, reproductive planning, and access to precision CFTR modulator therapies.
Cystic Fibrosis
Cystic fibrosis (CF) is an autosomal recessive multisystem disorder affecting the lungs, pancreas, liver, reproductive tract, and sweat glands. Prevalence is approximately 1 in 2,500–3,500 in Caucasian populations; carrier frequency is approximately 1 in 25 Caucasians. Disease is caused by biallelic pathogenic variants in CFTR, which encodes cystic fibrosis transmembrane conductance regulator, a chloride channel critical for proper fluid and electrolyte balance in epithelial tissues. More than 2,000 CFTR variants have been identified. F508del (deletion of phenylalanine 508) is by far the most common, accounting for approximately 70% of CF alleles worldwide and present in approximately 90% of CF patients (either heterozygous or homozygous). Clinically, CF presents with progressive lung disease (recurrent infections, bronchiectasis), pancreatic insufficiency (malabsorption, diabetes), and salt loss. Median life expectancy has extended from infancy in the 1980s to approximately 50 years today, primarily due to aggressive pulmonary management and increasingly due to CFTR modulator therapies, which have transformed CF from a fatal childhood disease into a manageable chronic condition.
CFTR encodes a 1,480-amino acid cAMP-regulated chloride channel localized to apical membranes of epithelial cells. Variants are classified by mechanism: Class I (nonsense, frameshift, canonical splice site) produce no protein; Class II (processing defects including F508del) cause misfolding and ER degradation; Class III (defective channel gating) impair opening; Class IV (reduced conductance) allow partial chloride flow; Class V (reduced amount) produce low levels of functional protein. F508del is a Class II variant causing misfolding and premature degradation. The CFTR protein is absolutely critical for chloride secretion; loss of function leads to dehydrated, viscous secretions in airways and ducts, causing obstruction, infection, and inflammation. Three CFTR modulator drugs are now approved and have transformed outcomes: ivacaftor activates gating mutations; lumacaftor/ivacaftor corrects F508del misfolding; elexacaftor/tezacaftor/ivacaftor extends to approximately 90% of CF patients.
CFTR genotyping is critical for CF diagnosis and increasingly for therapy selection. Ivacaftor (Kalydeco) activates specific gating mutations (G551D, G1244E, and others) and benefits approximately 4–6% of CF patients. Lumacaftor/ivacaftor (Orkambi) targets F508del homozygous patients—approximately 15% of CF—producing approximately 6-point FEV1 improvement. Elexacaftor/tezacaftor/ivacaftor (Trikafta), approved for CF patients with at least one F508del copy, extends eligibility to approximately 90% of CF patients; Trikafta produces approximately 10-point FEV1 improvement and has dramatically changed the CF landscape—mortality appears to be declining since approval. CFTR genotype directly determines which modulator(s) a patient can access, making genetic testing essential for therapy guidance and enabling individualized treatment selection.
Standard CF panels test 23–32 common variants. They miss rare mutations and have poor sensitivity in non-European ancestry populations.
Standard panels miss rare CFTR variants and have ancestry gaps
Standard CF carrier screening panels test 23–32 common variants (ACMG-23 expanded panel, for example). This strategy captures approximately 88% of carriers in Caucasians but only approximately 64% in Hispanic, approximately 49% in African American, and approximately 30% in Asian populations—a major health equity gap. Expanded panels including 100+ variants improve detection but still miss rare variants. Current standard panels do not assess modifier genes (such as TGFB1, MBL2) that influence disease severity. Whole genome sequencing captures all CFTR variants including novel ones, providing definitive carrier status assessment for all populations and enabling comprehensive genetic risk evaluation.
CFTR genotype determines access to life-changing modulator therapy
Three CFTR modulator drugs are now approved: ivacaftor for specific gating mutations (G551D, G1244E, etc.), lumacaftor/ivacaftor for F508del homozygotes, and elexacaftor/tezacaftor/ivacaftor for patients with at least one F508del copy. Trikafta is approved for approximately 90% of CF patients and has reduced mortality since approval, producing approximately 10-point FEV1 improvement. CFTR genotype directly determines which modulator a patient can access. Documented in the medical record and communicated to the patient, the genotype enables informed discussion of therapy options, treatment expectations, and prognosis—preventing delayed diagnosis and enabling early intervention that can preserve lung function and dramatically improve 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 Cystic Fibrosis 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
