MUTYH-associated Polyposis
Sequencing of the MUTYH gene

Genes
(full coding
region):		 MUTYH
Lab method: Sanger sequencing
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Targeted mutation analysis

Genes: MUTYH
No of
detectable
markers:		 2 (c.536A>G (p.Tyr179Cys); c.1187G>A (p.Gly396Asp))
Lab method: RFLP
TAT: 2-4 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

200 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Del/dup analysis

Genes: GREM1, MUTYH, SCG5
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

    1. Testing of individuals with clinical symptoms similar to FAP or AFAP but in whom no APC gene mutation has been identified
    2. Testing of first degree relatives of the affected individuals
    3. Genetic counseling

MUTYH-associated polyposis (MAP) is an autosomal recessive disorder characterized by a variable number of colorectal adenomas with a high risk of developing colorectal cancer. MAP is caused by biallelic germline mutations in MUTYH gene, but there is also evidence that monoallelic mutation carriers have an increased risk for developing colorectal cancer. The clinical symptoms of MAP are often undistinguishable from that of familial adenomatous polyposis (FAP) or attenuated FAP (AFAP) caused by mutations in adenomatous polyposis coli (APC) gene, but the age of onset is usually later compared to FAP patients. The two most common mutations in Caucasians, accounting for about 80% of mutant MUTYH alleles, are p.Y179C and p.G396D (also known as Y165C and G382D).