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Michelle
A patient who has truly benefited — and been able to significantly improve her health after getting her genome sequenced.
Outcomes
Three billion letters.
One that changed everything.
Families who had run out of tests to try. In each case the answer was already there, in a single stretch of their own genome. These are their stories, told alongside the letter that explained them.
01 · RARE GENETIC SYNDROME
RUNX1
Two conditions from a single test
Chromosome 21 · and a second finding consistent with Noonan Syndrome
“They never added the numbers up until now, when they saw the Dante Labs report.”
Thomas, Scotland · Queen Elizabeth University Hospital Glasgow
Two distinct variants, neither of them found by any earlier investigation. Both accepted by NHS genetics.
Before
Thomas went from one specialist to the next. Each saw a piece of a complex picture; none of the targeted panel tests could explain the whole of it, and every referral came back inconclusive.
The test
He ordered a Dante Genome Test himself and took the results to NHS genetics in Glasgow. Reading the whole genome rather than a panel, the clinical team found two things at once: variants consistent with Noonan Syndrome, and a RUNX1 deficiency carrying a hereditary leukaemia risk.
What changed
Both findings were accepted by the NHS. For the first time, cardiology and haematology were working from the same care plan.
Data accepted by NHS genetics at Queen Elizabeth University Hospital Glasgow. Clinical action taken by the NHS team. Dante produced the genomic data. This is a documented outcome at a named institution, not an endorsement by NHS.
02 · CHILDHOOD EPILEPSY
SLC2A1
A dietary intervention that changed everything
Chromosome 1 · the gene for the transporter that carries glucose into the brain
“The diagnosis was life-changing. Today my daughter is living a better life.”
Angela, mother
A pathogenic variant confirming GLUT-1 Deficiency Syndrome. Her brain wasn’t getting the fuel it needed.
Before
Angela’s daughter was four. Her seizures didn’t respond to anticonvulsants, and the standard epilepsy workups couldn’t say why.
The test
Whole genome sequencing found a pathogenic variant in SLC2A1. The diagnosis was GLUT-1 Deficiency Syndrome: glucose was not crossing into her brain effectively.
What changed
The treatment wasn’t a drug. For GLUT-1 Deficiency the established first-line intervention is a ketogenic diet, which gives the brain a fuel it can use. Her seizures reduced significantly.
Identification of the metabolic basis allowed dietary intervention. All clinical decisions were made by the treating physicians.
03 · BREAST CANCER
2019 → 2021
Genomic data that arrived before the diagnosis
Sequenced two years before the diagnosis it would inform
“Two years before my diagnosis, I had already sequenced my genome.”
Jennifer
A pharmacogenomic incompatibility with the standard chemotherapy protocol, flagged before treatment began.
Before
In 2019, nothing was wrong. Jennifer sequenced her genome with no clinical reason to; she simply wanted a complete account of her own genetic makeup.
The test
In 2021 she was diagnosed with breast cancer. Her existing pharmacogenomic data flagged an incompatibility with the standard chemotherapy protocol her oncology team was preparing to use.
What changed
Her team selected an alternative from day one, without first trying a protocol that might not have worked, and without the lost time that would have cost.
Pre-existing genomic data informed the treatment decision. The oncology team made the final clinical choice.
04 · NEUROLOGICAL CONDITION
GJC2
A name for what no one could explain
Chromosome 1 · a homozygous missense mutation
“We finally had something concrete — a name, a cause, a reason.”
Zarnish’s family
A definitive molecular diagnosis of Leukodystrophy, after years of scans that could not name it.
Before
From infancy, Zarnish had motor difficulties and visible clinical signs. Years of MRI findings and specialist consultations were inconclusive, and earlier genetic tests returned nothing that could be acted on.
The test
Whole genome sequencing found a homozygous missense mutation in GJC2, giving a definitive molecular diagnosis: Leukodystrophy.
What changed
With a confirmed diagnosis came a targeted care pathway, specialist support services, and early intervention planning. For the first time, something concrete.
The genetic basis was established and a targeted care pathway developed by the clinical team.
05 · CONGENITAL DEAFNESS
GJB2
An answer at twelve months
Chromosome 13 · a pathogenic homozygous variant
“At twelve months, we had an answer. We could finally move forward.”
Leon’s family
Bart-Pumphrey Syndrome, confirmed at twelve months, inside the window when early intervention matters most.
Before
Newborn and audiological screening confirmed that Leon was deaf. At twelve months, no cause had been identified.
The test
Whole genome sequencing revealed a pathogenic homozygous variant in GJB2, confirming a diagnosis of Bart-Pumphrey Syndrome.
What changed
An early molecular diagnosis meant audiological and developmental intervention could begin at a critical stage, inside a window that closes early in childhood and would otherwise have been missed.
Early identification enabled intervention during a critical developmental window.
Others who wrote to us
Shorter stories, in their own words.
"You save lives."
"Having seen how useful your reports are and having been identified as having long QT Syndrome, I have ordered 3 more test kits for family members. Despite my initial poor experience with Dante, I am pleased I stuck with you, as my results might just save a life in my family as this is the first time KCNQ1 has been raised."
"After years of trying to find out what was wrong with my kids and I, thanks to Dante Labs we now have an answer. Our symptoms match the results. We are in Australia and are now waiting on specialists."
"We received our tailored rare disease report this morning. It is exactly what we needed. The results look like they will be very helpful and are more comprehensive than we have had within our own healthcare system."
On camera
People who chose to be seen.
YouTube
Yousef Al-Refaee
After ten years of interest in genetics, he finally got his whole genome sequenced — and found what he was looking for.
YouTube
Juno Bartsch
An undiagnosed chronic illness. No family history to go on. Dante Labs helped find the genetic causes behind her symptoms.
Shared with permission. These are personal experiences, not clinical claims.
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