Test Catalog

Test ID: MTRBL    
MatePair, Targeted Rearrangements, Congenital

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

Second-tier testing when previous cytogenetic testing has detected a constitutional/congenital chromosome abnormality of unknown significance


Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities identified by conventional chromosome studies


Providing important diagnostic, prognostic, and therapeutic information critical to proper patient management

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

This testing is only appropriate for individuals with an apparently balanced constitutional/congenital chromosome rearrangement previously detected by a chromosome study. If constitutional/congenital chromosome testing was performed at another institution, supply a copy of those results. If sufficient information regarding the patient's known chromosome abnormality is not made available, this testing will be cancelled.

Special Instructions Library of PDFs including pertinent information and forms related to the test

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

Mate-Pair Whole Genome Sequencing

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


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

MatePair, Targeted, Congenital

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

Mate-Pair sequencing
Mate-Pair analysis
Balanced rearrangement characterization
Translocation characterization
Inversion characterization
Next Gen Sequencing Test
Mate Pair