Fanconi Anemia (DEB, MMC)
Alternate test name
Chromosome Breakage Tests
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
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.
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
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: firstname.lastname@example.org
Email Cytogenetics: email@example.com
Background and clinical significance
An increased spontaneous and MMC/DEB-induced breakage frequency is seen in Fanconi anemia patients.
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