Unit Code 82582:
Familial Adenomatous Polyposis (FAP) Mutation Screen
Useful For
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.
Testing Guides and Forms
| • | Molecular Genetics - Inherited Cancer Syndromes Patient Information Sheet |
| • | Informed Consent Form for DNA Testing |
| • | Colonic Adenomatous Polyposis Syndromes Testing Algorithm |
Method Name
Polymerase Chain Reaction (PCR) Amplification/DNA
Sequencing (Exons 1-14 and the 5'End of Exon15)/
Protein Truncation Test with Follow-up Sequencing When
Appropriate (Exon 15)/Multiplex Ligation-Dependent Probe
Amplification (MLPA) (Exons 1-15) of the APC Gene
(PCR is utilized pursuant to a license agreement with
Roche Molecular Systems, Inc.)
See "Colorectal Adenomatous Polyposis Algorithm" and
"FAP, AFAP, and MAP Diagnostic Algorithm" in Special
Instructions for additional information.
Reporting Name
FAP Mutation Screen
Ordering Mnemonic
FAPMS
Aliases
Adenomatous Polyposis Coli (APC)
APC (Adenomatous Polyposis Coli)
FAP (Familial Adenomatous Polyposis)
Gardner's syndrome
External link
PDF document
Excel document
Word document