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Test Catalog

Test ID: SMADS    
SMAD4 Gene, Full Gene Analysis

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


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

Confirmation of juvenile polyposis syndrome or juvenile polyposis/hereditary hemorrhagic telangiectasia for patients with clinical features


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

Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
COLDBHereditary Colon Cancer CGH ArrayYes, (order SDEL or HCCD)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, CGH array 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

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

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing of all coding regions and intron/exon boundaries of the SMAD4 gene.

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

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

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

SMAD4 Gene, Full Gene Analysis

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

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