MOLECULAR STUDY FAMILIAL ADENOMATOUS POLYPOSIS (APC, MYH) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3785

Sample:	Whole blood - EDTA(2 ml)
Conservation:	Refrigerated
Method:	Next-Generation Sequencing
Set Up Days:	Daily
TAT (Days):	35 days
Information:
Familial adenomatous polyposis is a syndrome of predisposition to colon cancer in which hundreds of thousands of precancerous colon polyps develop, beginning on average at 16 years (7-36 years). At 35 years 95% of individuals with familial adenomatous polyposis has polyps. Without colectomy, colon cancer is inevitable. The average age of diagnosis colon cancer in untreated individuals is 39 years (34-43 years). The demonstrations are polyps in the gastric fundus and duodenum, osteomas, dental abnormalities, congenital hypertrophy of retinal pigment epithelium, tumors in other tissues and association with other cancers.
Links:
OMIM Entry - #175100 - FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1
Orphanet- Familial adenomatous polyposis
OMIM Entry - -611731 - APC GENE; APC

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