Fanconi Anemia Carrier Testing

This test identifies carriers of and affected individuals with Fanconi anemia, type C for two associated mutations, IVS4+4A>T and 322delG.

Fanconi anemia (FA) is a rare autosomal recessive disorder with a highly variable clinical presentation: About 1 in 300 people are estimated to be carriers. It affects all races and genders.

Patients with FA have bone marrow failure (aplastic anemia) and may develop other blood disorders, such as pancytopenia, myelodysplasia. Other anomalies can also occur, which may include short stature, café-au-lait spots, arm and thumb anomalies, and renal malformations.

There are at least five genes that cause Fanconi anemia, A, B, C, D, and E. Mutations in the FAC gene account for about 14% of all FA diagnoses. The most common FAC mutation is IVS4+4A>T and is found almost exclusively in individuals who are Ashkenazi Jewish (AJ). About 1 in 89 Ashkenazi Jewish individuals are carriers. This analysis detects 99% of FAC mutations for Ashkenazi Jewish individuals.

The second most common FAC mutation is 322delG and is found in Northern European populations. 322delG and IVS4+4A>T account for 90% of all FAC mutations. Couples who are both carriers have a one in four risk of having a child with Fanconi anemia. DNA test results must be combined with clinical information for the most accurate interpretation.