Glaucoma Genetic Testing — MYOC, OPTN, CYP1B1 & Risk Genes | Dante Labs
GLAUCOMA — GENETIC TESTING

Glaucoma Genetic Testing — the leading cause of irreversible blindness worldwide, where genetic identification of at-risk family members enables the early detection and treatment that prevents vision loss before it occurs.

Whole genome sequencing evaluates all glaucoma genes — MYOC (juvenile and adult-onset POAG), OPTN, TBK1, WDR36, CYP1B1 (congenital glaucoma), LTBP2, TEK — plus polygenic risk variants that influence IOP and optic nerve susceptibility.

CLIA Certified CAP Accredited ISO 15189 Medical Lab ACMG Classified HIPAA & GDPR 100,000+ Genomes Sequenced
ABOUT GLAUCOMA — GENETIC TESTING

Glaucoma — Genetic Testing

Glaucoma is a group of progressive optic neuropathies and the leading cause of irreversible blindness worldwide, affecting approximately 3 million Americans and 80 million people globally. Primary open-angle glaucoma (POAG) — the most common form — has heritability of approximately 40-65%, with first-degree relatives of POAG patients having 4-10x increased risk. MYOC (myocilin) is the most well-established POAG gene: pathogenic variants cause approximately 3-5% of POAG (higher in juvenile-onset POAG — up to 10-36%) with autosomal dominant inheritance, typically presenting with very high intraocular pressure (IOP). OPTN (optineurin) causes normal-tension glaucoma.

Congenital (infantile) glaucoma — presenting in the first year of life with corneal enlargement (buphthalmos), tearing, and photophobia — is most commonly caused by CYP1B1 (autosomal recessive, ~85% of isolated congenital glaucoma in some populations) and LTBP2. This is a surgical emergency — trabeculotomy or goniotomy must be performed promptly to prevent permanent optic nerve damage. Molecular CYP1B1 confirmation enables carrier testing of parents and prenatal/preimplantation genetic testing for future pregnancies.

The clinical value of glaucoma genetic testing lies primarily in presymptomatic family screening. Glaucoma is irreversible — once optic nerve fibers are lost, they cannot regenerate. However, glaucoma is highly treatable when detected early (IOP-lowering drops, laser trabeculoplasty, MIGS surgery). Identifying MYOC variant carriers through family cascade testing enables IOP monitoring BEFORE optic nerve damage occurs — the optimal prevention window. MYOC carriers typically develop elevated IOP 5-20 years before visual field loss, providing a substantial treatment window when carriers are identified genetically.

Glaucoma vision loss is irreversible but PREVENTABLE with early treatment. MYOC carriers develop elevated IOP years before visual field loss — genetic identification enables treatment before any vision is lost.

WHY WHOLE GENOME SEQUENCING

Glaucoma is irreversible but preventable. Genetic testing identifies family members at risk BEFORE optic nerve damage begins — the only strategy that prevents all vision loss rather than slowing ongoing loss.

MYOC carriers have 5-20 years of elevated IOP before visual field loss — genetic identification enables pre-damage treatment

MYOC-associated POAG typically progresses through elevated IOP → cupping of the optic disc → thinning of the retinal nerve fiber layer → visual field loss. This progression takes years to decades. Genetic identification of MYOC carriers enables IOP monitoring from earliest adulthood (or late childhood for juvenile-onset variants), with IOP-lowering therapy initiated at the first sign of elevated pressure — preventing all optic nerve damage. Family members screened clinically may not be evaluated until symptoms prompt an eye exam, by which time significant irreversible damage has occurred.

CYP1B1 congenital glaucoma is a surgical emergency — molecular confirmation enables genetic counseling and prenatal diagnosis for future pregnancies

Congenital glaucoma caused by CYP1B1 requires urgent surgical intervention (trabeculotomy/goniotomy) to prevent optic nerve destruction. CYP1B1 is autosomal recessive — carrier parents have 25% recurrence risk in each subsequent pregnancy. Molecular confirmation of biallelic CYP1B1 variants enables preimplantation or prenatal genetic testing, and alerts neonatologists to evaluate the next child's IOP at birth rather than waiting for clinical signs.

WHAT SEQUENCING YOUR ENTIRE GENOME ACTUALLY MEANS
01

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.

02

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.

03

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.

OUTCOMES

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.

See outcomes →
WHO WE HELP

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.

ALREADY TESTED

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.

30X whole genome coverage
5M+ variants identified per test
200+ customized clinical reports
99.98% sequencing accuracy

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

Clinical Laboratory Improvement Amendments College of American Pathologists American Society of Human Genetics Nature International Society for Cell & Gene Therapy Gene Journal
FREQUENTLY ASKED QUESTIONS

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.

PATIENT ADVOCACY GROUPS

We work with patient advocacy groups worldwide.

Dante Labs works with patient advocacy groups of any size — for Glaucoma — Genetic Testing 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

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.

Free global shipping
Ships within 48 hours
Results in 6–8 weeks

Ships within 48 hours · Results in 6–8 weeks

Dante Labs Genome Test Kit