About Bloom Syndrome

Deeper Dive

For more in-depth information on Bloom syndrome, we recommend reviewing the below:


GeneReviews is an international point-of-care resource for clinicians and provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

The GeneReviews aricle on Bloom syndrome can be found here

Genetic Testing

One of the mutations that causes Bloom syndrome is more common in persons of Ashkenazi Jewish descent and is commonly known as the BLMAsh variant. Additional resources on testing for the BLMAsh variant are below:

  • 23andMe provides testing on the BlmAsh variant. (Note: there are many other mutations that cause Bloom syndrome and hence this test is not a comprehensive test for diagnosing Bloom syndrome.)
  • Jewish Genetic Disease Consortium: Resources for Genetic Testing 

Questions about the types of genetic testing that are available?

Contact Us 

Glossaries and Additional Information


The BSA seeks to stimulate research into Bloom syndrome and maintains an active Medical-Scientific Advisory Board. See the Research page for more information on publications and active research studies.