Chromosome Analysis, Blood, Fanconi Mutagen Sensitivity Study


Sunquest Code:FANCCGCoPath Code:FANC
Epic Code:LAB4755Epic Name:Fanconi Anemia Study
Sunquest Code (non-Epic sites):FANCCG  
Synonyms:DEB Test; Fanconi Anemia; Mutagen Stress Test
Methodology:Chromosome breakage analysis.
CPT Code:----------CPTCODES HERE----------
Turnaround Time:Results are reported within 7-14 days.
Special Instructions:Test request form requires:
  • Date and time of specimen collection
  • Specimen type
  • Patient information: date of birth, sex, and medical record number
  • Ordering physician and contact number
  • Reason for referral
  • Clinical status
  • Information regarding medications or transfusions
  • Prevous or pending genetic testing results
Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Blood
Optimal Volume:5 mL
Minimum\Peds Volume:3 mL
Causes for Rejection:Clotted or frozen specimen.


Processing and Shipping

Specimen Processing:Store at room temperature. Do NOT refrigerate or freeze.
Specimens must be received in the Cytogenetics laboratory Mon-Fri by 5:30 pm. Weekends and holidays by 4:30 pm. Specimens received after the above cuttoff times will be processed the following day.
Shipping Instructions:Ship at room temperature. For optimal testing results the specimen 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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