Chromosome Breakage Studies for Fanconi anemia

TEST NAME:   Chromosome Breakage Studies for Fanconi anemia

INDICATIONS FOR TESTING:   Suspicion of Fanconi anemia (FA) with symptoms that may include hematologic conditions such as AML and solid tumors, growth retardation, thumb abnormalities, and/or radial aplasia, hyperpigmentary skin changes, cardiac, genitourinary, and/or kidney abnormalities.

TEST INFORMATION:   Blood is exposed to Mitomycin C (MMC) and/or Diepoxybutane (DEB) which leads to an increased rate of chromosome breakage in patients with Fanconi Anemia. Chromosome breakage after exposure to DEB is diagnostic for FA but cannot determine the Fanconi Anemia complementation group. Additional send-out testing would be necessary to determine a specific gene associated with the specific complementation group; there are at least 16 different genes known to be associated with FA.

REQUIRED FORMS:   Postnatal Test Request Form

OTHER FORMS:   Request for Pre-Authorization for Genetic Testing (Postnatal Diagnoses on peripheral blood)


SPECIMEN COLLECTION & SHIPPING

SPECIMEN REQUIREMENTS: 

  • Blood >3 mo of age: 3-5 ml in a sodium heparin tube (green top)
  • Blood (newborn minimum requirement): 1.5 ml in a sodium heparin tube (green top)

CPT CODES:   88230(x3), 88248, 88249(x2), 88291

PRICING:   Contact the laboratory billing staff for current costs


TURN-AROUND-TIME:   Results are typically available in 7-10 days; 5-7 days for newborn studies.

LINKS and REFERENCES:   Fanconi Anemia Test Procedure 


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contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248
humangenetics@unmc.edu

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