Medical Genetics

Fanconi Anemia Group C Carrier Testing

Fanconi anemia is a disease characterized by numerous physical abnormalities, progressive bone marrow failure, and an increased risk of malignancy. Fanconi anemia group C is caused by mutations in the FANCC gene. The carrier risk for Fanconi anemia group C in the Ashkenazi Jewish population is 1 in 89.

Fanconi anemia group C carrier testing by DNA analysis is offered as part of a genetic screening panel for the Ashkenazi Jewish population which includes cystic fibrosis, Tay-Sachs disease, Canavan disease, and familial dysautonomia. See Ashkenazi Jewish Genetic Screening - Panel 1 for testing information.

Indications for Testing

Carrier screening

Gamete donors

Testing Methodology

Direct mutation analysis: Our laboratory utilizes Amplification Refractory Mutation System (ARMS) technology to screen for the single mutation relevant in the Ashkenazi Jewish population. The mutation is IVS4+4A>T.

Sensitivity

The carrier detection rate for DNA analysis of Fanconi anemia group C in the Ashkenazi Jewish population is 99%.

This carrier screening test is most appropriate for individuals of Ashkenazi Jewish descent. This test may not be appropriate for individuals from other ethnic backgrounds. The sensitivity of this carrier screen in non-Jewish populations has not been established. This test is not appropriate for fetal diagnosis or diagnosis of individuals with clinical phenotype.

Specimen Requirements

Blood: 5 cc whole blood collected in a purple top (EDTA) or yellow top (acid citrate dextrose) vacutainer tube. Do not centrifuge or freeze. Sample may be refrigerated or stored at room temperature.