At Genolife Laboratory We work closely with specialists who are looking for efficient detection methods.
One of the cases in which we recently performed exome sequencing at Genolife was that of Andrés, in collaboration with the Dr. Valeria Montes, Medical Geneticist who pointed him toward us.
Andrés, 21, first began experiencing his current condition at age 15, with decreased strength in his hands, difficulty moving, frequent involuntary movements, changes in his voice, and frequent falls.
After several years, misdiagnoses, and a decline in his quality of life, Andrés is now, He was diagnosed correctly with Wilson's disease, so we perform the We performed whole-exome sequencing and were subsequently able to detect variants associated with that disease in our laboratory.
Thanks to this, Andrés is already receiving a specific treatment which will help you enjoy a better quality of life.
Wilson's Disease It is an inherited disorder rare condition that causes a copper accumulation in the liver, brain, and other vital organs.
Copper plays a key role in the development of healthy nerves, bones, collagen, and melanin, the skin's pigments. However, in people with Wilson's disease, Copper is not being removed properly Instead, it builds up, possibly to a level that poses a risk to life.
When diagnosed early, Wilson's disease is treatable, and many people with this disorder lead normal lives.
We firmly believe that the exome analysis would help in many cases to a rapid disease detection caused by mutations in a shorter time and prevent the damage they may cause, since choosing a targeted treatment or therapy As soon as possible, this would improve the quality of life and life expectancy of people who suffer from these conditions.
Currently, whole-exome sequencing, also known in English as Whole-Exome Sequencing (WES) It is mainly used for the detection of variants (mutations) rare in patients with a suspected genetic disorder.
The use of exome sequencing for screening holds the promise of reduce the diagnostic ordeal for many patients. By 2013 alone, it was reported that this technique had led to the identification of more than 180 distinct new disease-causing genes, which is why it has been classified as a highly efficient screening method.
Whole-exome sequencing is a approach cost-effective and efficient which has provided an opportunity to detect disease-causing variants in virtually all coding regions of the genome. It is becoming increasingly common to use exome sequencing to provide disease risk predictions, which can influence their lifestyle choices and decisions.
In addition, its The cost has been drastically reduced today making it accessible to more people, and it is becoming increasingly popular because of its the ability to study most of the genome, as well as its mutations.
Sequencing is and will remain the technique of choice for the accurate diagnosis of genetic conditions.
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