METHOD AND KITS FOR DETECTING RECESSIVE MUTATIONS ASSOCIATED WITH GENETIC DISEASES

摘要

The present invention provides a method for simultaneously determining the presence or absence of multiple genetic mutations in an individual. The mutations contemplated by the present invention are preferably genetic recessive diseases, which include lactic acidosis, also known as the French Canadian variant of Leigh syndrome (LSFC), tyrosinemia type 1, hereditary sensitivomotrice neuropathy, with or without agenesis of the corpus callosum (ACCPN) and spastic ataxia of Charlevoix-Saguenay (ARSACS). The present invention also relates to kits for carrying out the method envisaged.