If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.
Identification of carrier and affected individuals for two mutations, IVS4+4A>T and 322delG, associated with Fanconi anemia, type C.
Lavender (EDTA), 10mL
Yellow ACD (A or B)
Yellow ACD (A or B), sterile plastic conical tube or two confluent T-25 flasks for fetal testing
Polymerase chain reaction (PCR), primer extension and flow-sorted bead array analysis
An interpretive report will be provided
Prenatal testing is available.
Fanconi anemia (FA) (OMIM 227645) 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 have bone marrow failure (aplastic anemia) and may develop other blood disorders, such as pancytopenia, myelodysplasia, or acute myelogenous leukemia. Other anomalies can also occur, which may include short stature, cafe-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 Jweish 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.