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Test ID: BMPRZ BMPR1A Gene, Full Gene Analysis

Useful For

Confirmation of juvenile polyposis syndrome for patients with clinical features

 

This test should be ordered only for individuals with symptoms suggestive of juvenile polyposis syndrome. Asymptomatic patients with a family history of juvenile polyposis syndrome should not be tested until a mutation has been identified in an affected family member.

Additional Tests

Test ID Reporting Name Available Separately Always Performed
COLAB Hereditary Colon Cancer CGH Array Yes, (order FMTT) Yes

Testing Algorithm

When this test is ordered, comparative genomic hybridization array will always be performed at an additional charge.

 

See Colonic Polyposis Syndromes Testing Algorithm in Special Instructions.

Method Name

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

 

Array comparative genomic hybridization (aCGH) is used to test for the presence of large deletions and duplications.

Reporting Name

BMPR1A Gene, Full Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Clinical Information

Juvenile polyposis syndrome (JPS) is a rare hereditary cancer predisposition syndrome caused by mutations in the SMAD4 or BMPR1A genes. JPS is characterized by the presence of multiple histologically defined juvenile polyps in the upper and/or lower gastrointestinal (GI) tract and an increased risk for GI cancers. Age of onset for cancer development is typically in the second or third decade of life, although some patients present with a more severe infantile-onset form of the disease. JPS is inherited in an autosomal dominant fashion, although a significant proportion of probands have no family history. Approximately 50% of patients with JPS have an identifiable mutation in the SMAD4 or BMPR1A genes.

Reference Values

An interpretive report will be provided.

Interpretation

All detected alterations are evaluated according to American College of Medical Genetics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424

2. Lammi L, Arte S, Somer M, et al: Mutations in AXIN2 Cause Familial Tooth Agenesis and Predispose to Colorectal Cancer. Am J Hum Genet 2004;74:1043-1050

3. Liu W, Dong X, Mai M, et al: Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signaling. Nat Genet 2000;26:146-147

4. Mai M, Qian C, Yokomizo A, et al: Cloning of the human homolog of conductin (AXIN2), a gene mapping to chromosome 17q23-q24. Genomics 1998;55:341-344

5. Dong X, Seelan RS, Qian C, et al: Genomic structure, chromosome mapping and expression analysis of the human AXIN2 gene. Cytogenet Cell Genet 2001;93:26-28

Day(s) and Time(s) Performed

Performed weekly, Varies

Analytic Time

14 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479-Unlisted molecular pathology code

 

Hereditary Colon Cancer CGH Array

81228-Cytogenomic constitutional (genome-wide) microarray analysis; interrogation of genomic regions for copy number variants (eg, bacterial artificial chromosome or oligo-based comparative genomic hybridization microarray analysis)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
BMPRZ BMPR1A Gene, Full Gene Analysis In Process

 

Result ID Test Result Name Result LOINC Value
52479 Result Summary 50397-9
52480 Result In Process
52481 Interpretation In Process
52482 Additional Information 48767-8
52483 Specimen 31208-2
52484 Source 31208-2
52485 Array Billed? No LOINC Needed
52486 Released By No LOINC Needed

Forms

1. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519) in Special Instructions

2. 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 Genetic Testing (T576) is available in Special Instructions.

3. If not ordering electronically, complete, print, and send a Gastroenterology and Hepatology Test Request Form (T728) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/gastroenterology-and-hepatology-test-request.pdf)

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-inherited-molecular