Chromosome Analysis, Blood, Fanconi Mutagen Sensitivity Study


Sunquest Code:FANCCGCoPath Code:FANC
Epic Code:LAB4755Epic Name:Fanconi Anemia Study
Sunquest Code (non-Epic sites):CYHOLD  
Synonyms:DEB Test; Fanconi Anemia; Mutagen Stress Test
Methodology:Determined by laboratory director based on clinical information. Chromosome breakage analysis.
CPT Code:88230 (culture), 88249 (analysis), 88291 (interpretation)
Turnaround Time:Processed daily. Results are reported within 7-14 days.
Special Instructions:Request form should include date and time of specimen collection, attending physician, diagnosis (or reason for referral), clinical status, information regarding medication or transfusions, and specimen type.
Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Blood
Optimal Volume:10 mL
Minimum Volume:5 mL
Container:Green (sodium heparin, no gel).
Causes for Rejection:Clotted or frozen specimen.


Processing and Shipping

Specimen Processing:Store at room temperature. Do NOT refrigerate or freeze.
Shipping Instructions:Ship at room temperature. Must arrive within 24 hours.
Test Performed at or Referral Lab Cytogenetics  (UMMC-East Bank)


Interpretive

Use:Useful for the differential diagnosis between idiopathic aplastic anemia and Fanconi anemia. After treatment with similar doses of bifunctional alkylating agents such as Diepoxybutane (DEB) or Mitomycin C (MMC), Fanconi anemia patients will typically show a greater than 50-fold increase in rates of chromosome breakage compared to concurrent controls or other aplastic anemia patients.


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