Published 22/04/2010
Familial Adenomatous Polyposis
Sequencing of the APC gene
Genes
(full coding
region): |
APC |
| Specimen requirements: |
2-4 ml of blood with anticoagulant EDTA
2 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. |
Del/dup analysis of the APC gene
| 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. |
Indications for mutation analysis:
1. Testing of individuals with adenomatous polyps
2. Testing of first degree relatives of the affected individuals
3. Genetic counseling
Familial adenomatous polyposis (FAP) is a colon cancer predisposition syndrome characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. By age 35, 95% of individuals with FAP have polyps. If left untreated, patients with this syndrome develop colon cancer by age 35-40. APC-associated polyposis conditions are inherited in an autosomal dominant manner.
Published 10/05/2010
Asper Oncogenetics
Asper Oncogenetics is a set of genetic tests related to common and rare hereditary cancers, including colorectal cancer, breast and ovarian cancer, lung cancer, thyroid cancer as well as cancer related syndromes.
We offer quick services for early diagnosis and estimation of disease risk. Early diagnosis of cancer is vital to improve the outcome of treatment and, therefore, prevent cancer related deaths.
