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Test Catalog

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

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


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

Custom Sequence Capture and Targeted Next Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

(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