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Test ID: FAPMS    
Familial Adenomatous Polyposis (FAP) Mutation Screen

Secondary ID A test code used for billing and in test definitions created prior to November 2011


NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Useful For Suggests clinical disorders or settings where the test may be helpful

Confirmation of familial adenomatous polyposis (FAP) diagnosis for patients with clinical features


This test should be ordered only for individuals with symptoms suggestive of FAP. Asymptomatic patients with a family history of FAP should not be tested until a mutation has been identified in an affected family member.

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

APC gene sequence analysis for exons 1-14 and PTT for exon 15. Changes identified in exon 15 via PTT are verified by DNA sequencing. Gene dosage analysis by multiplex ligation probe amplification (MLPA) is used to investigate for the presence of large deletions and duplications encompassing the coding regions as well as promoter 1A and 1B of the APC gene.

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

See Colonic Adenomatous Polyposis Syndromes Testing Algorithm in Special Instructions.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis/Protein Truncation Test with Follow-up sequencing when appropriate

Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

Direct Mutation Analysis Utilizing Fluorescent DNA Sequencing
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

FAP Mutation Screen

Aliases Lists additional common names for a test, as an aid in searching

Adenomatous Polyposis Coli (APC)
APC (Adenomatous Polyposis Coli)
Gardner's Syndrome