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Test ID: SDEL    
Single-Gene Large Deletion and Duplication Analysis

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

Diagnostic or predictive testing for hereditary colorectal cancer when a large deletion or duplication in 1 of the listed genes has been identified in a family member

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

This test includes array comparative genomic hybridization (CGH) for a single gene listed in the method. Documentation of the gene selected is required.

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

Gene Dosage Analysis by Array Comparative Genomic Hybridization (aCGH)

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

Single-gene Large Del/Dup

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

Array CGH
Hereditary Colorectal Cancer
Hereditary Colon Cancer
Targeted-Gene Panel
Targeted Gene Panel
Colon Cancer
Colorectal Cancer
SCG5
STK11
SMAD4
BMPR1A
PTEN
CDH1
AXIN2
P53
TP53
CHEK2
Hereditary Diffuse Gastric Cancer
Cowden
Cowden syndrome
Li-Fraumeni
Li-Fraumeni syndrome
Peutz-Jeghers
Petuz-Jeghers syndrome
Juvenile Polyposis
Juvenile Polyposis syndrome