Familial Adenomatous Polyposis (PAP) Mutation Screen

Message

Test performed by Mayo Medical Laboratories
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.

Test Code

FAPMS or 82582

Alias/See Also

Adenomatous Polyposis Coli (APC)
APC (Adenomatous Polyposis Coli)
Gardner Syndrome

CPT Codes
83891, 83892x4, 83894x4, 83898, 83900x3, 83901x8, 83909x30,83912, 83905x4, 83906, 83914x26

Preferred Specimen

Whole Blood
Lavender Top Tube(EDTA) or yellow top (acd)

Minimum Volume

3mL

Other Acceptable Specimens

Any anticoagulant

Instructions

Invert tube several time to mix blood.
Send specimen in original tube.
Must be accompanied with Patient Information Sheet and informed consent form.

Transport Temperature

Ambient

Specimen Stability

Specimen must arrive within 96 hours of draw.

Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)

Hemolysis, Lipemia, Icterus

Methodology
Polymerase Chain Reaction (PCR) followed by DNA Sequencing Analysis/Protein Truncation Test with Follow-up sequencing when appropriate
Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)
Direct Mutation Analysis Utilizing Fluorescent DNA Sequencing

Reference Range

An interpretive report will be provided.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.