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Phone Icon Phone Support:  1-800-876-0243     Mail Icon  info@amsreferencelab.com     Location Icon 2916 E. Central Wichita, KS 67214    
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Test ID: ZH145

Fanconi Anemia C Mutation Analysis

  • CPT Code: 81242, 88233, 88240, 88235, 88240, 81265
  • LOINC:
  • Specimen Type: ACD
  • Frequency: Setup: Tues; Analytic time 7 days
  • Instructions: 5mL whole blood in yellow ACD tube (or EDTA), Ambient or refrigerated. Min 2.0mL whole blood. Alt/ Amniotic fluid or Chorionic Villi
  • Text: Useful For: Carrier testing for individuals of Ashkenazi Jewish ancestry, prenatal diagnosis for at-risk pregnancies, confirmation of clinical diagnosis in individuals of Ashkenazi Jewish ancestry.
  • Methodology: Polymerase chain reaction (PCR) analysis used to test for the following mutations associated with Fanconi anemia: 322delG and IVS4(+4)A->T.

 

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