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Test ID: SMADK    
SMAD4 Gene, Known Mutation

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Useful For Suggests clinical disorders or settings where the test may be helpful

Predictive testing for juvenile polyposis syndrome or juvenile polyposis/hereditary hemorrhagic telangiectasia when a point mutation or small insertion/deletion/duplication 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

Documentation of the specific familial mutations must be provided with the specimen in order to perform this test.

Note: To test for a familial large deletion or duplication, order SDEL / Single-Gene Large Deletion and Duplication Analysis. Contact Mayo Medical Laboratories at 800-533-1710 for testing recommendations.

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

Method Name A short description of the method used to perform the test

Polymerase chain reaction (PCR) amplification/DNA sequencing is used to detect the presence of a specific mutation in the SMAD4 gene that was previously identified in an affected family member.

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

SMAD4 Gene, Known Mutation

Aliases Lists additional common names for a test, as an aid in searching

SMAD4
Juvenile polyposis syndrome
JPS
Hereditary hemorrhagic telangiectasia
HHT
Hereditary colorectal cancer
Arteriovenous Malformations (AVM)
AVM (Arteriovenous Malformations
ORW (Osler-Rendu-Weber)
Osler-Rendu-Weber (ORW) Disease
Osler-Weber-Rendu (OWR) Disease
OWR (Osler-Weber-Rendu) Disease
Telangiectasia
Myhre
Myhre syndrome