Test ID: SBK
Chromosome Analysis, Spontaneous Breakage Analysis, Blood
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
Useful For Suggests clinical disorders or settings where the test may be helpful
Evaluating patients with possible chromosome instability syndromes including ataxia telangiectasia (AT) and Nijmegen breakage syndrome (NBS)
Evaluating patients for toxic agent exposure
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 breakage in patients with ataxia telangiectasia (AT) or Louis-Bar syndrome or Nijmegen breakage syndrome (NBS) (chromosomal breakage syndromes). Chromosomal breakage 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, elevated rates of chromosomal breakage or rearrangements are observed. Chromosomal breakage also is seen in response to exposure to toxic agents.
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
Aliases Lists additional common names for a test, as an aid in searching
Ataxia Telangiectasia (AT)
Chromosome Breakage Disorder
Chromosome Breakage Syndrome
Chromosome Spontaneous Breakage
Louis-Bar Syndrome
NBS (Nijmegen Breakage Syndrome)
Nijmegen Breakage Syndrome (NBS)
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