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. One of two specific mutations 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.
Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.
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.
Amniotic Fluid: 10 ml in conical tube
Cultured Cells: two confluent T-25 flasks
Additionally, please send:
5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary
Forms and Brochures
Carrier Screening Requisition and Consent [PDF]
Expanded Ashkenazi Jewish Carrier Screening Brochure [PDF]
Ashkenazi Jewish Carrier Screening Panel