Backlog, delays and sequencing update: 300 people received their results last week Backlog, delays and sequencing update: 300 people received their results last week
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Christine's Story

Christine's Story

“ Too many people assume that being young and fit means that you can’t possibly have a cardiac issue. There is a big need to raise need to raise the importance of genetic screening for anyone. Given the hidden nature of some genetic conditions, such as Brugada Syndrome, a person may not known to be a carrier of a life-threatening cardiac condition. Knowing that can change lives..

 Christine is a 30 years old married woman with a beautiful 5 years old daughter. She had a happy life until last year, when, on a Tuesday morning, her life and the life of her family totally changed, forever!

After having getting ready for work and bringing her 5 years old son at school, she got to the office at 9:00 am and, after 10 minutes, she collapsed at her desk. Christine had just suffered a cardiac arrest.

 Luckily, she was promptly dispatched from a local Ambulance Station to the nearest hospital of Chicago where doctors managed to save her life from the coma.

Several days and numerous tests later, Christine didn’t have a final diagnosis. She was in status of shock for what had happened and felt her world being totally turned upside down without knowing the cause of all.

Doctors started to talk about genetics, but no cause was identified with common tests.

After this shocking event, Christine’s husband decided to start learning more about genetics and heart diseases and, with the purpose to dig deeper into innovative services, he identified Dante Labs as the reliable provider for running the most complete genetic testing out of the market, the Whole Genome Sequencing.

After 6 weeks of anxious waiting, the results came through. A special broad analysis related to all the genes expressed in the cardiovascular system was performed and, with the help of a genetic specialist, a pathogenic variant in the KCNE3 gene was found.

The results caught Brugada Syndrome, a rare cardiac genetic syndrome. Specifically, the diagnosis was for the Type 2, a life-threatening cardiac condition that is not shown up routinely by way of a general ECG.

Even though that information was exhausting at a psychological level, finally, it revealed to be tremendously informative.

After getting the diagnosis, doctors agreed to install an Implanted Cardioverter-Defibrillators, known as an ICD. The device is now protecting Christine from any further potential episodes of ventricular tachycardia and/or ventricular fibrillation leading to possible cardiac arrest.

Moreover, since the syndrome has a 50% chance of being passed down to her kids, Christine and her husband decided to screen their daughter to confirm whether she was also carried  of the gene fault and thereby to have confirmation whether she was affected by Brugada Syndrome too. Fortunately, the genome analysis revealed negative results.

 

 

Angela’s story

Angela’s story

Angela was a 4-year-old child when, suddenly, started to present seizures and, gradually, other associated neurological conditions. She visited many doctors and took multiple drugs. Unfortunately, with limited effects. Not knowing what to do about her daughter, Emma, Angela’s mother, decided to opt for Dante Labs “My Full DNA” Analysis. A saliva sample was taken and shipped out to Dante Labs, then the entire genome analysis was performed and. After 12 weeks,  she received a report via email where a bunch of genetic variants were listed and scientifically explained. The report was about “Epilepsy and seizures associated with neurological conditions”, surveying 128 genes. Angela’s mother decided to go to a geneticist to get an opinion. He found the Dante Labs report very informative with comprehensive actionable information and ended up with a final diagnosis. Angela was affected by a specific form of epilepsy called GLUT-1 deficiency, where an insufficient level of glucose reaches the brain. The diagnosis was life-changing. Angela started a specific diet - ketogenic diet - and tailed down her anticonvulsant medicines. Today Angela is living a better life.

Johannes’ story

Johannes’ story

Why did Johannes choose Dante Labs?

Johansen has a family history that gives him a good reason to be concerned about his health. Many of his close relatives have had various diseases like Motor Neurone Disease (MND), Myoadenylate deaminase (MAD) deficiency, Hereditary Hemochromatosis, Charcot-Marie-Tooth Disease (CMT, CMT4, CMT4A, CMT4 SB2, CMT1A) and inflammatory myopathy. There are also a few isolated cases of individuals on both sides of his family that have Duchenne, Beckers, and Thomsen. Also, since the high prevalence of Dystrophia Myotonica (DM1) in Iceland, most of his family members are affected by this disease.

After this troubling family history in term of diseases, Johannes decided to dig deeper into his genetic makeup and go to an NHS* Hospital (hereinafter, “the Hospital”: we prefer not to disclose the name of the British public hospital - ed.). Here is what Johannes directly reported: “The Hospital was supposed to have the most advanced Genetic Department in Scotland but, in reality, they are very far behind what Dante Labs produces and all their research is based on blood or muscle samples only. They can only look at a single gene at a time. They talk about how advanced they are but it is more related to voodoo practice than precise DNA science… Looking back at some of the diagnosis that has been done in the past to explain what was happening to my body and why some of my symptoms are the way they are, might not be 100% correct and should perhaps be looked at again”.

*National Health Service is the name used for each of the public health services in the United Kingdom

How Dante Labs ‘results have helped Johannsen

After having received the final results from Dante Labs, which provides a thorough and accurate report finding the real diseases afflicting him, Johannsen decided to go to two geneticists to get an opinion from two insiders. Here is what Johannsen said about this: “They were very impressed with the data that I had received from Dante Labs. Finally, I would like to thank Dante Labs for being so helpful and providing excellent molecular genetic data and the surprising find in my data is related to Noonan Syndrome – A2ML1 gene mutation and RUNX1 Deficiency – involving mutations in the RUNX1 gene that have been related to different types of Leukaemia and related blood disorders. This information has now been acted upon and blood samples have been taken and being analyzed… The data I have received from Dante Labs is like a Goldmine”.