Fanconi Anemia

Test Description:

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.

Specimen Requirements: 

Post-natal: Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top). 


  • Chorionic Villi: 5-10 mg in conical tube with sterile saline OR transport media
  • Amniotic Fluid: 10 ml in conical tube
  • Cultured Cells: two confluent T-25 flasks

Additionally, please send:

  • 5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
  • 5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary

Shipping: Ship at room temperature.

Turnaround Time: 10-14 days

CPT Codes: 81242

Consent and requisition forms: Carrier Screening Requisition and Consent [PDF]

Additional information: Expanded Ashkenazi Jewish Carrier Screening brochure [PDF]

Related Tests: Ashkenazi Jewish Carrier Screening Panel