Description
Fragile X syndrome (Martin-Bell syndrome) is an inherited sex-linked disease that represents the most common cause of mental retardation and syndromic form of autism with certain phenotypic features. This syndrome is characterized by an increase in the number of trinucleotide CGG repeats in the FMR1 gene (expansion of non-coding repeats) located on the X chromosome and coding for the protein of the same name in males. Genetic testing is intended for the diagnosis of Fragile X syndrome and consists of determining the pathological expansion in the FMR1 gene in boys.
Period of execution
Within 10 days. The specified time does not include the day of biomaterial collection
Biomaterial type