Bloom Syndrome: BLM Recurrent Mutations

Alternate test name

BLM, BLS, BS

Gene name / Alternate gene name

BLM
RECQL3, BS

Protein

Bloom syndrome, RecQ helicase-like

Lab area

Genome Diagnostics - Molecular Genetics

Method and equipment

Targeted analysis of recurrent mutations

Expected turn-around time

Prenatal: 2 weeks Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks

Specimen type

Blood; gDNA

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

Specimen requirements

Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
DNA-minimum 10 ug in 100 uL low TE (pH8.0)

Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information

The Hospital for Sick Children

Division of Genome Diagnostics

555 University Avenue, Black Wing, Room 3416

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200 ext. 2

Hours: Monday to Friday, 8 a.m. to 4:30 p.m.

Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642

Email Molecular Lab: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Bloom Syndrome: BLM Recurrent Mutations - requisition

Background and 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.

See related information sheet: Ashkenazi Jewish Screening Panel

Disease condition

Bloom Syndrome (part of the Ashkenazi Jewish screening panel)