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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bloom syndrome


Other Names for this Disease

  • BLM
  • Bloom-Torre-Machacek syndrome
  • BLS
  • BS
  • Congenital Telangiectatic Erythema
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

References
Other Names for this Disease
  • BLM
  • Bloom-Torre-Machacek syndrome
  • BLS
  • BS
  • Congenital Telangiectatic Erythema
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.