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- 322delG Mutation
- IVS4+4A->T Mutation
- Jewish Heritage Test
Identification of carrier and affected individuals for two mutations, IVS4+4A>T and 322delG, associated with Fanconi anemia, type C. Prenatal testing is available.
This test detects ∼99% of the mutations responsible for Fanconi anemia, type C in Ashkenazi Jews, namely the IVS4+4A>T and 322delG mutations. No other mutations are detected. This test is not appropriate for non-Ashkenazi Jewish individuals.
Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis
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, 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.
Whole blood, amniotic fluid, chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing), or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)
7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit
3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs
Maintain specimen at room temperature or refrigerate.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab