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
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.
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Test ID | Secondary ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| FUSEQ | 82555 | DNA Sequence, Follow-up Analysis | No | No |
Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)
| Test ID | Test Number | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| FAPDB | 89850 | FAP Large Del/Dup, MLPA | No | Yes |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, FAPDB/89850 FAP Large Deletion/Duplication, MLPA will always be performed at an additional charge. If protein truncation test is positive, FUSEQ/82555 DNA Sequence, Follow-up Analysis will be performed at an additional charge.
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
FAPMS/82582: Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis/Protein Truncation Test with Follow-up sequencing when appropriate
FADPB/89850: Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)
FUSEQ/82555: 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
Aliases Lists additional common names for a test, as an aid in searching
APC (Adenomatous Polyposis Coli)
Gardner Syndrome
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