Krabbe Disease — a fatal leukodystrophy where a 30-day treatment window after birth determines whether presymptomatic stem cell transplant can preserve neurological function or the opportunity is permanently lost.
Whole genome sequencing identifies all GALC variants — including the 30kb deletion common in European populations — enabling carrier screening, prenatal diagnosis, and the critical early identification that makes presymptomatic HSCT possible.
Krabbe Disease
Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disorder caused by pathogenic variants in GALC (galactosylceramidase) on chromosome 14q31.3. GALC deficiency leads to accumulation of psychosine (galactosylsphingosine), which is directly toxic to oligodendrocytes and Schwann cells — the myelin-producing cells of the central and peripheral nervous systems. Progressive demyelination produces the devastating clinical phenotype. Infantile Krabbe disease affects approximately 1 in 100,000 births, with higher prevalence in Scandinavian populations.
Infantile Krabbe disease presents at 3-6 months of age with irritability, progressive spasticity, developmental regression, optic atrophy, and peripheral neuropathy. Untreated, it follows a rapid and uniformly fatal course — most affected children die before age 2. Late-onset forms (juvenile and adult) present with progressive spastic paraparesis, peripheral neuropathy, and cognitive decline, and can be misdiagnosed as multiple sclerosis, hereditary spastic paraplegia, or other demyelinating conditions.
Presymptomatic hematopoietic stem cell transplantation (HSCT) — performed before 30 days of life in infantile Krabbe disease — can substantially alter the disease trajectory, preserving cognitive function and extending life by years to decades. However, this narrow treatment window requires that affected newborns be identified before symptom onset. New York State began universal newborn screening for Krabbe disease in 2006, and several additional states have since added it. For populations without universal NBS, carrier screening and prenatal diagnosis through molecular GALC genotyping represent the only pathway to presymptomatic identification.
The 30kb deletion in GALC (c.1161+6532_polyA del) accounts for approximately 40-50% of disease alleles in European populations. Standard exon-sequencing panels may miss this large deletion — whole genome sequencing detects it directly.
Enzyme assay screens detect low GALC activity but cannot distinguish infantile from late-onset forms. The GALC genotype determines disease severity and HSCT eligibility — information that enzyme activity alone does not provide.
The 30kb GALC deletion is missed by exon-sequencing panels — whole genome sequencing reads it directly
The most common GALC pathogenic allele in European populations is a ~30kb genomic deletion (c.1161+6532_polyA del) that removes exons 11-17 and extends into the 3' flanking region. This large structural variant is not detectable by standard exon-sequencing panels or Sanger sequencing of individual exons — it requires either deletion/duplication analysis (MLPA) or whole genome sequencing, which reads across the deletion breakpoints directly. A patient carrying one GALC point mutation and one 30kb deletion will appear heterozygous (carrier) on exon sequencing alone, potentially delaying the diagnosis of an affected infant during the critical treatment window.
Identifying carriers before pregnancy enables delivery planning at HSCT-capable centers — the 30-day window is not negotiable
Presymptomatic HSCT for infantile Krabbe disease must be performed before approximately 30 days of life to achieve optimal outcomes. This means that at-risk pregnancies must be identified prenatally, that delivery must occur at or near a center capable of immediate HSCT workup, and that a donor search must begin before birth. None of this is possible if the first indication of Krabbe disease is the newborn screening result — which in many states takes 5-7 days and is followed by confirmatory testing. Carrier screening through whole genome sequencing identifies at-risk couples preconceptionally, providing the full pregnancy duration for delivery and transplant planning.
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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.
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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.
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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.
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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.
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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.
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Dante Labs works with patient advocacy groups of any size — for Krabbe Disease and other conditions, rare and common. We support groups in any country, including virtual patient advocacy groups.
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