Unit Code 82582:
Familial Adenomatous Polyposis (FAP) Mutation Screen
Useful For 
Suggests clinical disorders or settings where the test may be helpful
Confirmation of 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.
Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)
| Unit Code | Reporting Name | Available Separately | Always Performed |
| 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, #89850 "FAP Large Deletion/
Duplication, MLPA" will always be performed at an additional
charge.
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
82582: Polymerase Chain Reaction (PCR) followed by
DNA Sequence Analysis/Protein Truncation Test with
follow-up sequencing when appropriate (PCR is utilized
pursuant to a license agreement with Roche Molecular
Systems, Inc.)
89850: Gene Dosage Analysis by Multiplex
Ligation-Dependent Probe Amplification (MLPA).
(PCR is utilized pursuant to a license agreement
with Roche Molecular Systems, Inc.)
See "Colorectal Adenomatous Polyposis Algorithm" in
Special Instrucitons.
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
FAP Mutation Screen
Ordering Mnemonic An alternate Mayo code (to the Unit Code) for a test
FAPMS
Aliases Lists additional common names for a test, as an aid in searching
Adenomatous Polyposis Coli (APC)
APC (Adenomatous Polyposis Coli)
FAP (Familial Adenomatous Polyposis)
Gardner's syndrome
Soft-FAPMS
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