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Fanconi anemia, chromosome DEB assay

Lab Section:  Sendout Reference  
Lab Location:  Sendout
Reference Lab: Quest 
Test ID: LAB2167 
Methodology: Polymerase Chain Reaction Allele specific primer extension Fluorescent detection/color coded microspheres
Schedule: Mon-Thurs cut-off Noon
Reported: 2 weeks
Specimen Requirements:  Collection: 10.0 mL Blood in a Dark Green Top Tube.
Pediatric volume: 3 mL.
Whole blood; Green Top Sodium Heparin Tube
Transport: Transport ambient or refrigerated.
Unacceptable conditions: Specimen stored or shipped frozen
Stability: Ambient: 8 days; Refrigerated: 8 days

Notes: 

Reflex Criteria: This test may be canceled and replaced by Chromosome Analysis, Blood, No Growth, if the specimen does not yield mitotically active cells for analysis

Clinical Indications: This analysis only evaluates the amount of breakage in the cells and will not identify any specific mutation in the DNA. This test will reliably detect affected individuals but is not an appropriate test for unaffected carriers of the disorder. This test does not rule out numeric or structural chromosomal abnormalities. Some individuals with characteristics suggestive of FA may have normal results in the DEB chromosome breakage test, therefore, a negative DEB study does not rule out FA in all cases. This test will not rule out the possibility of birth defects such as those caused by chromosome abnormalities, mutations in other genes important in development, and environmental or in-utero exposures. This test is indicated to rule out Fanconi anemia, an inherited autosomal recessive disorder, characterized in the laboratory by chromosome breakage and drug hypersensitivities. Healthy individuals are able to repair DNA breaks, whereas patients with Fanconi anemia are impaired.

Reference Interval:  See patient report or consult reference laboratory website.
CPT Code(s): 88230, 88249
Last Changed: 11/24/2016 00:20:39
Last Reviewed: 11/24/2016 00:23:33