Here is more in-depth information on Bloom syndrome:
GeneReviews
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.
Genetic Testing
Bloom syndrome is caused by mutations in the BLM genes of affected individuals. There are currently many different known BLM mutations. Genetic testing plays a crucial role in Bloom syndrome by providing vital information for accurate diagnosis, informed decision-making regarding family planning, and research efforts to help us better understand Bloom syndrome and develop future treatments.
For more information about genetic testing and counseling services, please talk to your healthcare provider. Here is also a list of genetic testing and counseling services available worldwide:
Glossaries and Additional Information
- Talking Glossary of Genetic Terms (NHGRI)
- Dictionary of Genetics Terms (NCI)
- Dictionary of Cancer Terms (NCI)
- Cancer Types (NCI)
- Genetics Home Reference (NLM)