GENOMIC DIAGNOSTICS
MOLECULAR GENETIC TESTING
DNA laboratory of the 5th neurological department became one of the first labs in our country that performs molecular tests for neurological diseases.
The laboratory is equipped with the latest, high-tech hardware necessary for carrying out molecular genetic studies using real-time PCR, fragment analysis, and sequencing.
On the basis of the laboratory, original protocols of DNA diagnostics of trinucleotide repeat expansion disorders (Huntington's disease, Friedreich's ataxia and other progressive hereditary ataxias, Kennedy’s spinal and bulbar amyotrophy) are developed, the most frequent mutations in torsion dystonia, Parkinson's disease, spinal muscular atrophy, CADASIL, Wilson’s disease, spastic paraplegia type 4 etc are routinely diagnosed. The MLPA diagnostic method (Multiplex ligation-dependent probe amplification) has been introduced for the simultaneous detection of the most significant mutations in Parkinson's disease.
The first experience of the new generation of high-performance sequencing has been received. The development and introduction of new DNA diagnosis protocols (for example, Niemann-Pick disease, dentatorubral–pallidoluysian atrophy, atypical parkinsonism, etc.) are underway.