Next-generation sequencing is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the APC gene. Array comparative genomic hybridization (aCGH) is used to test for the presence of large deletions and duplications.
Confirmation of FAP diagnosis for patients with clinical features.
Interpretive report provided.
14 - 28 days
- FAP Mutation Screen
- FAP Large Del/Dup, MLPA
- DNA Sequence, Follow-up Analysis
- Familial Adenomatous Polyposis (FAP) Mutation Screen
- Adenomatous Polyposis Coli (APC)
- APC Gene, Full Gene Anlaysis
- Hereditary Colon Cancer CGH Array (COLAB)
Collect blood in a lavender top (EDTA) or yellow top (ACD) tube. Invert several times to mix. Send intact specimens stored and transported at room temperature within 48 hours of collection; do not refrigerate or freeze.
Hereditary Colon Cancer CGH Array (COLAB) will also be performed and billed at a separate additional charge. Note that FAP mutation analysis should always be preceded and followed by appropriate genetic counseling. By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test sent to Mayo Medical Laboratories.