Test Catalog

Test ID: CRAT    
Chromosome Analysis, Rearrangement in Ataxia Telangiectasia, Blood

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

Evaluating patients for chromosome instability syndromes, including ataxia telangiectasia and Nijmegen breakage syndrome

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

This test is useful for detecting increased spontaneous chromosomal rearrangement in patients with ataxia telangiectasia (AT) or Nijmegen breakage syndrome (NBS), both are chromosomal instability syndromes. Chromosomal instability syndromes are characterized by defects in DNA repair mechanisms or genetic instability. Patients with these syndromes have an increased risk of developing malignant disorders. When blood from affected individuals is cultured and chromosome analysis is performed, an elevated rate of chromosomal rearrangement is observed.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
_ML50Metaphases, <50No, (Bill Only)No
_M100Metaphases, 50-100No, (Bill Only)No
_KTG2Karyotypes, >2No, (Bill Only)No

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

This test includes a charge for cell culture of fresh specimens and professional interpretation of results. Analysis charges will be incurred for total work performed, and generally include 2 banded karyograms and the analysis of 20 metaphase cells. If no metaphase cells are available for analysis, no analysis charges will be incurred. If additional analysis work is required, additional charges may be incurred.

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

72-Hour Cell Culture with Phytohemagglutinin Followed by Chromosome Analysis

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

Chromosomes, Rearrangement in AT

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

Chromosome Breakage Syndrome
Chromosome Instability Syndromes
Chromosome Spontaneous Breakage
Nijmegen Breakage Syndrome (NBS)