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Fanconi Anemia (DEB, MMC)

Alternate test name

Chromosome Breakage Tests

Lab area
Genome Diagnostics - Cytogenetics
Method and equipment
3 day PHA-stimulated culture +/- cross-llinking chemicals; solid stain and analysis
Expected turn-around time
Routine: 4 weeks Newborns and expedite cases: 5-9 working days
Specimen type

Peripheral blood

Specimen requirements

0-3 months; 3 mL, 3 months -12 years; 3-6 mL,12 years-Adult; 6 mL in sodium heparin tube

Storage and transportation

Maintain at room temperature. Do not refrigerate or freeze.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
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:
Email Cytogenetics:
Background and clinical significance

An increased spontaneous and MMC/DEB-induced breakage frequency is seen in Fanconi anemia patients.

Disease condition

Fanconi anemia

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