Colorectal adenomatous polyposis, autosomal recessive (MUTYH gene – selected fragment)
Analysis ID 164
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Colorectal adenomatous polyposis, autosomal recessive (MUTYH gene – selected fragment)
OMIM #608456
Clinical information Familial adenomatous polyposis (FAP) is an inherited disorder characterized by a formation of multiple polyps (benign tumors), which develop in the colon at an early age (second decade). Unless the polyps are removed, they become malignant and turn into cancer. The average age at which an individual develops colorectal cancer in classical familial adenomatous polyposis is 39 years. The disease is usually autosomal dominant and is caused by mutation in the APC gene. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is retarded. The autosomal recessive type of FAP is caused by mutations in a different gene (MUTYH) than the classical and attenuated types of FAP.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes MUTYH
Analysis description Testing of the 2 most common mutations in the MYTUH gene
Analysis indication Colorectal adenomatous polyposis
Analysis time 3 - 4 weeks
Refund No
CGM laboratory name Laboratory for Molecular Genetics and Oncology