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Diseases

Genetic and Rare Diseases Information Center (GARD)

Bloom syndrome


Other Names for this Disease
  • BS
  • Bloom-Torre-Machacek syndrome
  • BLM
  • Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
  • BLS
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Your Question

Can Bloom syndrome be detected before symptoms appear?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is Bloom syndrome diagnosed?

Bloom syndrome is diagnosed by either cytogenetic analysis or mutation testing. Cytogenetic analysis is used to detect if there is an increased amount of sister chromatid exchange in cells. Genetic testing can reveal if a person has mutations in the BLM gene, which are known to cause Bloom Syndrome.[1] If an individual has a family history of Bloom syndrome, one of these two testing methods may be used to find out if the person has also inherited the condition. An unusually low birth weight and short height throughout childhood are suggestive of Bloom syndrome in an individual with an affected sibling.[2] For more information about the diagnosis of Bloom syndrome, please visit: http://www.ncbi.nlm.nih.gov/books/NBK1398/#bloom.Diagnosis
Last updated: 4/13/2012

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

References
Other Names for this Disease
  • BS
  • Bloom-Torre-Machacek syndrome
  • BLM
  • Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
  • BLS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.