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Chromosome Analysis, Sister Chromatid Exchange

Test code(s) 14599

Question 1. My patient has a family history of Bloom syndrome. Does a negative result guarantee that my patient is not a carrier for Bloom syndrome?

No, this assay is meant to diagnose Bloom syndrome in patients suspected of having the disorder. This assay will not detect carriers. Bloom syndrome carrier studies for individuals of Ashkenazi Jewish origin are available, using Quest Diagnostics test code 90872 (or 90873 for New York State), Bloom Syndrome DNA Mutation Analysis.

Question 2. Can this assay detect other chromosome breakage syndromes, including ataxia telangiectasia and Nijmegen breakage syndrome?

No. This test was designed specifically to detect the increase in sister chromatid exchange levels that is specific to Bloom syndrome. Please call 866-GENE-INFO for information on additional testing options.

Question 3. My patient's test results were negative or inconclusive but there is still a high suspicion that this patient has Bloom syndrome. Are there any other 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 866-GENE-INFO to discuss and coordinate additional studies.

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 his/her education, clinical expertise, and assessment of the patient.
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