Chromosome Analysis, Blood, Fanconi Mutagen Sensitivity


Abbrev Code:FANCCG   
Order Code:LAB4755Order Name:Chromosome Analysis, Blood, Fanconi Mutagen Sensitivity
Synonyms:FANCON; DEB Test; Fanconi Anemia; Mutagen Stress Test
Methodology:Chromosome breakage analysis.
CPT Codes: 88230 x1, 88249 x1, 88291 x1
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
  • Previous or pending genetic testing result

  A signed informed consent in the patient's medical record is required. The consent should not be sent to the laboratory. A link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors. See Associated Links.
Associated Links:

Genetic Testing Consent Form


Collection Instructions

Specimen:Whole blood.
Optimal Volume:5 mL
Minimum\Peds Volume:3 mL
Container:Green (sodium heparin, no gel)
Causes for Rejection:Clotted or frozen specimen. Incorrect specimen collection tube (anticoagulant).


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 cut off times will be processed the following day.
Shipping Instructions:Ship at room temperature.
Stability:
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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