Unit Code 83001:
Familial Adenomatous Polyposis (FAP) Known Mutation
Method Description
DNA sequence analysis or dosage analysis by multiplex ligation
-dependent probe amplification (MLPA) is used to determine the
presence or absence of the mutation previously identified in a family
member of the patient. (Powell SM, Petersen GM, Krush AJ, et al:
Molecular diagnosis of familial adenomatous polyposis. N Engl J
Med 1993;329:1982-1987; Giardiello FM, Brensinger JD, Petersen
GM, et al: The use and interpretation of commercial APC gene
testing for familial adenomatous polyposis. N Engl J Med 1997;
336:823-827; Michils G, Tejpar S, Thoelen R, et al: Large deletions
of the APC gene in 15% of mutation-negative patients with classical
polyposis [FAP]: a Belgian study. Hum Mutat 2005 Feb;25(2):125-134)
Performing Laboratory Location
Rochester
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