Bloom Syndrome: BLM Recurrent Mutations
BLM, BLS, BS
- RECQL3, BS
For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
If sample shipment >48 hours, ship on ice.
Bloom syndrome (BLM) is characterized by short stature, sun-sensitive facial erythema, and immunodeficiency. Individuals with BLM are at increased risk for the development of cancer and diabetes. BLM is an autosomal recessive (AR) condition caused by the lack of RecQ DNA helicase, an enzyme involved in DNA repair. The BLM gene which codes for RecQ DNA helicase located at 15q26.1. One mutation in the BLM gene accounts for 98% of the mutations seen in Ashkenazi Jewish (AJ) individuals affected with BLM.
See related information sheet: Ashkenazi Jewish Screening Panel
Bloom Syndrome (part of the Ashkenazi Jewish screening panel)
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