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
| • | Molecular Genetics-Inherited Cancer Syndromes Patient Information Sheet |
| • | Informed Consent for DNA Testing |
| • | Colorectal Adenomatous Polyposis Algorithm |
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
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 Instructions.
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)
Gardner Syndrome
Soft-FAPMS
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Specimen must arrive within 96 hours of draw.
Container/Tube: Lavender-top (EDTA) tube or yellow-top (ACD) tube
Specimen Volume: 3 mL of whole blood
Forms: "Molecular Genetics-Inherited Cancer Syndromes Patient Information Sheet" (Supply T519)
Note: New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An "Informed Consent for DNA Testing" (Supply T576) is available.
See Special Instructions for a copy of these forms.
Collection Instructions: Invert several times to mix blood. Send specimen in original VACUTAINER.
Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
3 mL
The amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Transport Temperature Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) and unacceptable transport temperature(s) are also included. The preferred transport temperature is listed first, followed by the alternate acceptable temperature (if appropriate) and lastly, the unacceptable transport temperature(s).
Ambient\Refrig OK\Frozen NO
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
Hemolysis: No
Lipemia: NA
Icteric:
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Familial adenomatous polyposis (FAP) is an autosomal dominant
condition caused by mutations in the APC gene located on the long
arm of chromosome 5 (5q21). Classic FAP is characterized by
progressive development of hundreds to thousands of adenomatous
colon polyps. Polyps may develop during the first decade of life and
the majority of untreated FAP patients will develop colon cancer by
age 40. Typically, there is a predominance of polyps on the left side
of the colon, however other areas of the colon my also be affected.
The presence of extracolonic manifestations is variable and includes
gastric and duodenal polyps, ampullary polyps, osteomas, dental
abnormalities (unerupted teeth), congenital hypertrophy of the retinal
pigment epithelium (CHRPE), benign cutaneous lesions, desmoids
tumors, hepatoblastoma, and extracolonic cancers. Common
constellations of colonic and extracolonic manifestations have resulted
in the designation of 3 clinical variants: Gardner syndrome, Turcot
syndrome, and hereditary desmoid disease.
Gardner syndrome is characterized by colonic polyps of classic FAP
with epidermoid skin cysts and benign osteoid tumors of the mandible
and long bones. Turcot syndrome is characterized by multiple colonic
polyps and central nervous system (CNS) tumors.
Turcot syndrome is an unusual clinical variant of FAP, as it is also
considered a clinical variant of hereditary nonpolyposis colorectal cancer
(HNPCC). Individuals with Turcot syndrome have CNS tumors in addition
to adenomatous polyps. The types of CNS tumor observed helps to
distinguish Turcot-FAP variant patients from Turcot-HNPCC variant
patients. The predominant CNS tumor associated with the Turcot -FAP
variant is medulloblastoma, while glioblastoma is the predominant CNS
tumor associated with Turcot-HNPCC.
Hereditary desmoid disease (HDD) is a variant of FAP with multiple
desmoids tumors as the predominant feature. Many patients with HDD
may not even show colonic manifestations of FAP. APC germline testing
may assist clinicians in distinguishing a sporadic desmoid tumor, from
that associated with FAP.
Attenuated FAP (AFAP) is characterized by later onset of disease and a
milder phenotype (typically <100 adenomatous polyps and fewer
extracolonic manifestations) than classic FAP. Typically individuals with
AFAP develop symptoms of the disease at least 10 to 20 years later than
classically affected individuals. Individuals with AFAP often lack a family
history of colon cancer and/or multiple adenomatous polyps. Of note,
clinical overlap is observed between AFAP and MYH-associated
polyposis (MAP), an autosomal recessive polyposis syndrome typically
associated with fewer than 100 polyps. Although the clinical phenotype of
MAP remains somewhat undefined, extracolonic manifestations, including
CHRPE have been described in affected patients. Given the phenotypic
overlap of AFAP and MAP, these tests are commonly ordered together
or in a reflex fashion.
See "Colorectal Adenomatous Polyposis Algorithm" in Special
Instructions for additional information. Also see "Hereditary Colorectal
Cancer: Adenomatous Polyposis Syndromes" (September 2004
Communique') in publications for additional information.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation Provides information to assist in interpretation of the test results
An interpretive report will be provided.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
A small percentage of individuals who are carriers or have a diagnosis
of FAP may have a mutation that is not identified by this method (eg,
promoter mutations, deep intronic alterations). The absence of a
mutation(s), therefore, does not eliminate the possibility of positive
carrier status or the diagnosis of FAP. For carrier testing, it is important
to first document the presence of an APC gene mutation in an affected
family member.
In some cases, DNA alterations of undetermined significance may be
identified.
Rare polymorphisms exist that could lead to false-negative or
false-positive results. If results obtained do not match the clinical
findings, additional testing should be considered.
A previous bone marrow transplant from an allogenic donor will
interfere with testing. Call Mayo Medical Laboratories for instructions
for testing patients who have received a bone marrow transplant.
Test results should be interpreted in the context of clinical findings,
family history, and other laboratory data. Errors in our interpretation
of results may occur if information given is inaccurate or incomplete.
We strongly recommend that patients undergoing predictive testing
receive genetic counseling both prior to testing and after results are
available.
In addition to disease-related probes, the multiplex ligation probe
amplification (MLPA) technique utilizes probes localized to other
chromosomal regions as internal controls. In certain circumstances,
these control probes may detect other diseases or conditions for
which this test was not specifically intended. Results of the control
probes are not normally reported. However, in cases where clinically
relevant information is identified, the ordering physician will be
informed of the result and provided with recommendations for any
appropriate follow-up testing.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. American Society of Clinical Oncology. American Society of
Clinical Oncology policy statement update: genetic testing for
cancer susceptibility Clin Oncol. 2003;21:2397-2406
2. Half E, Bercovich D, Rozen P: Familial adenomatous polyposis.
Orphanet J Rare Dis. 2009 Oct 12;4:22
3. Croner RS, Brueckl WM, Reingruber B, et al: Age and manifestation
related symptoms in familial adenomatous polyposis. BMC Cancer
2005 Mar 2;5:24
Method Description Describes how the test is performed and provides a method-specific reference
DNA sequencing is used to detect mutations in exons 1-14 (segment
1) and the 5' end of exon 15. The protein truncation test is used to
screen for mutations in exon 15 (segments 2-5) of the APC gene. If
an alteration is detected within exon 15, DNA sequencing will be
performed to characterize the alteration. MLPA is used to detect
large deletions/duplications.
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Friday; 2 p.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
14 days
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
28 days
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Positives: Indefinite; Negatives: 3 months
Performing Laboratory Location The location of the laboratory that performs the test
List Fee Provides the Mayo Medical Laboratories list fee for performing the test
$1,300.00
The following test(s) will be added at an additional charge:
$273.00 for #89850 "FAP Large Deletion/Duplication, MLPA"
$1,573.00 = Total List Fee
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
This test was developed and its performance characteristics determined by Laboratory Medicine and Pathology, Mayo Clinic. This test has not been cleared or approved by the U.S. Food and Drug Administration.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each unit code or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
"Familial Adenomatous Polyposis (FAP) Mutation Screen"
DNA Sequence Analysis
83891-Isolation or extraction of highly purified nucleic acid
83892 x 4-Enzymatic digestion
83894 x 4-Separation by gel electrophoresis
83898-Amplification, target, each nucleic acid sequence
83900 x 3-Amplification, target, multiplex, first 2 nucleic acid sequences
83901 x 8-Amplification, target, multiplex, each additional nucleic acid sequence beyond 2
83909 x 30-Separation and identification by high-resolution technique
83912-Interpretation and report
Protein Truncation
83894 x 4-Separation by gel electrophoresis
83898 x 4-Amplification, target, each nucleic acid sequence
83905 x 4-Mutation identification by allele-specific transcription, single segment
83906 x 4-Mutation identification by allele-specific translation, single segment, each segment
"FAP Large Deletion/Duplication, MLPA"
83900-Amplification, target, multiplex, first 2 nucleic acid sequences
83909-Separation and identification by high-resolution technique
83914 x 26-Mutation identification by enzymatic ligation or primer extension, single segment, each segment
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