Fanconi anemia (FA) is an autosomal recessive disorder characterized by pancytopenia, hyperpigmented skin and predisposition to malignancy. This disorder occurs at a higher frequency in the Ashkenazi Jewish population. A mutation in FA complementation group C [FANCC: c.456+4A->T (IVS4+4A->T), c.67delG (322delG)] is present in approximately 1 in 100 individuals of Ashkenazi Jewish decent. Testing for this mutation identifies about 99% Ashkenazi Jewish carriers of FA. The American College of Medical Genetics recommends that carrier screening for FA be offered to individuals with at least one grandparent of Eastern European (Ashkenazi) Jewish ancestry before/during pregnancy.
1. Auerbach, A. Fanconi Anemia: Genetic tesing in Ashkenazi Jews. Genetic Testing 1:27-33, 1997.
2. Scott, S.A., Edelmann, L., Liu, L., Luo, M., Desnick, R.J. and Kornreich, R. Experience with carrier screening and prenatal diagnosis for sixteen Ashkenazi Jewish Genetic Diseases. Hum. Mutat. 31:1-11, 2010.
Specimen Requirements: Two 5-10 ml tubes of anticoagulated blood. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.
Shipping: Send at room temperature.
Turnaround Time: 10-14 days
CPT Codes: 83891, 83892x2, 83900, 83912, 83914x2
Consent and Requisition Forms: Carrier Screening Requisition and Consent [PDF]
Additional Information: Jewish Genetic Screening Brochure [PDF]
Related Tests: Ashkenazi Jewish Carrier Test Panel
Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.