The laboratory provides molecular genetic testing for inherited metabolic disorders and several other genetic disorders. Mutation analysis of more than 60 genes is available - see the List of available mutations analysis. The testing is performed upon the request of the health care providers. Contacting the laboratory before sending the samples is necessary.
Contact
Lenka Dvořáková, PhD. (email: lenka.dvorakova @ lf1.cuni.cz)
Hana Vlášková, MSc. (email: hana.vlaskova @ lf1.cuni.cz)
Laboratory of molecular genetics is accredited according to CSN EN ISO 15189:2013 and participates annually in external quality assessment schemes (EMQN and RfB-DGKL).
Research
The laboratory participates on publication activities and grant projects:
· Niemann-Pick disease type C : clinical, molecular genetic, biochemical and morphological study. Development of new diagnostic and predictive algorithms.
· Progress in methods of laboratory diagnostics of inherited lysosomal neurodegenerative disorders
