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Test Catalog

Test ID: SBK    
Chromosome Analysis, Spontaneous Breakage Analysis, Blood

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

Evaluating patients with possible chromosome instability syndromes including ataxia telangiectasia and Nijmegen breakage syndrome

Genetics Test Information Provides information that may help with selection of the correct 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) (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.

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

72-Hour Culture with Phytohemagglutinin 

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

Chromosomes, Spontaneous Breakage

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

AT (Ataxia Telangiectasia)
Ataxia Telangiectasia (AT)
Chromosome Breakage Disorder
Chromosome Breakage Syndrome
Chromosome Spontaneous Breakage
NBS (Nijmegen Breakage Syndrome)
Nijmegen Breakage Syndrome (NBS)