The RCMG launched a free diagnostics program of tuberous sclerosis - a rare genetic disease
The Epigenetics Laboratory at the Academician Bochkov Research Centre for Medical Genetics has launched a free tuberous sclerosis diagnostic program. Doctors throughout Russia can take advantage of the program; to do so, they need to send the patient's biomaterial to the laboratory. The free program is available for patients:
- under 18;
- who has a diagnosed but not genetically confirmed tuberous sclerosis.
The tuberous sclerosis impairs the nervous system, which manifests as epilepsy, oligophrenia, skin damage, and kidney tumors may develop.
In 2013, the Epigenetics Laboratory developed its own technique for diagnosing tuberous sclerosis, based on the study of the TSC1, TSC2 genes by targeted parallel sequencing. It enables to identify the cause of the disease even in a mosaic genotype, i.e., when not all of the patient's cells have a pathogenic mutation, which occurs in about 30% of cases. In case of ambiguous results of targeted parallel sequencing, MLPA study is performed to identify large deletions. No repeated biomaterial donation is required.
A targeted drug is available for children with tuberous sclerosis at the expense of the Circle of Kindness Foundation, however the molecular diagnostics to confirm its effectiveness in a particular case is required in order to prescribe it.
Details about the program are available in the "Medical Services - Free Diagnostic Programs" section of the website.
https://med-gen.ru/meditcinskie-uslugi/besplatnye-diagnosticheskie-programmy/
Doctors can also call the hotline 8-800-100-31-87 on weekdays from 4:00 to 19:00 Moscow time. The call in Russia is free of charge.