Bloom Syndrome

Bloom syndrome (BS) is a rare disorder characterized by severe prenatal and postnatal growth retardation, sun-sensitive facial erythema and predisposition to multiple cancers. The development of cancer is the most frequent complication and involves cancers of the skin, leukocytes, lymphoid tissues, connective tissues, germ cells, nervous system and kidneys. Other common findings in individuals with BS include learning disabilities, recurrent infections, chronic pulmonary disease and diabetes mellitus. Infertility is common in male patients. While most female patients do not experience infertility, they have been found to enter menopause prematurely. Affected individuals of different ethnic groups share a similar phenotype. Although BS is rare, it is more common in the Ashkenazi Jewish population due to a founder effect. Bloom syndrome is often in the differential diagnosis when there is unexplained severe intrauterine and postnatal growth retardation or the presentation of cancer in a very young individual.

Tests Available

Forms and Documents

Test Details

  • Confirmation of a clinical diagnosis or positive cytogenetic testing for sister chromatid exchange (SCE)
  • Carrier testing in at-risk family members
  • Prenatal diagnosis for known mutations


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs | Fibroblasts (separate charge for cell culture may apply)

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.


81209x1, 81479x1
For price inquiries please email

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.


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