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Paediatric Laboratory Medicine

Fanconi Anemia Testing

Clinical Significance

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

Test Name

Fanconi Anemia Testing

Alternate Name/ Synonym

MMC/DEB testing

Division

Cytogenetics

Method

3 day PHA-stimulated culture +/- cross-llinking chemicals; solid stain and analysis

External Proficiency Testing

Internal Proficiency Testing

Turn Around Time

4 weeks for routine
5-9 working days for expedite

Disease/Condition

Fanconi anemia

Specimen Type

Peripheral blood

Minimum Specimen Requirements

3-6mL (3 mL minimum for neonates)

Storage/Transportation

Maintain at room temperature. Do not refrigerate or freeze.

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

Provided