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Bloom Syndrome (BLM)




  • Bloom Syndrome

Clinical Utility

  • 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

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code


CPT Codes*

81209x1, 81479x1

ABN Required


Turnaround Time**

3 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Fibroblasts (separate charge for cell culture may apply)

*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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.