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Quest Diagnostics

Chromosome Analysis, Sister Chromatid Exchange

Test code(s) 14599

No. This assay is meant to diagnose Bloom syndrome in patients suspected of having the disorder. This assay will not detect carriers. To detect Bloom syndrome carriers for individuals of Ashkenazi Jewish origin, use “Bloom Syndrome DNA Mutation Analysis (test code 90872)”.

No. This test was designed specifically to detect the increase in sister chromatid exchange levels that is specific to Bloom syndrome. Please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to talk with a genetic science specialist about additional testing options. 

The sister chromatid exchange assay is highly specific to Bloom syndrome. As there are rare cases of mosaicism, additional cells can be examined at your request. Molecular genetic testing may also be appropriate. Please call Quest Genomics Client Services at 1.866.GENE.INFO (1.866.436.3463) to talk with a genomic science specialist. 

This FAQ is provided for informational purposes only and is not intended as medical advice. A physician’s test selection and interpretation, diagnosis, and patient management decisions should be based on the physician’s education, clinical expertise, and assessment of the patient.


Document FAQS.71 Version: 1

Version 1: Effective 10/31/2023 to present

Version 0: Effective 08/31/2012 to 10/31/2023

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