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Paediatric Laboratory Medicine

Bloom Syndrome: BLM Recurrent Mutations

Clinical Significance

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.

Test Name

Bloom Syndrome: BLM Recurrent Mutations

Alternate Name/ Synonym

  • BLM
  • BLS
  • BS

Gene Name

  • BLM

Alternate Gene Name

RECQL3, BS

Test Code

BLOOM

Division

Molecular Genetics

Method

Targeted analysis of recurrent mutations

External Proficiency Testing

CAP

Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)

Protein

Bloom syndrome, RecQ helicase-like

Disease/Condition

Bloom Syndrome (part of the Ashkenazi Jewish screening panel)

Specimen Type

Bone Marrow. 

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Minimum Specimen Requirements

5 mL EDTA

Storage/Transportation

Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes

81479

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Interpretation

Interpretation is provided in report