Fanconi Anemia (Type C), DNA Analysis

CPT 81242
  • 322delG Mutation
  • IVS4+4A->T Mutation
  • Jewish Heritage Test

Test Details


Identification of carrier and affected individuals for two mutations, IVS4+4A>T and 322delG, associated with Fanconi anemia, type C. Prenatal testing is available.

Special Instructions

If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.


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


American College of Obstetricians and Gynecologists, “Prenatal and Preconceptional Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish Descent,” Technical Bulletin 298, Washington, DC: ACOG, August 2004.
Auerbach AD, “Fanconi Anemia: Genetic Testing in Ashkenazi Jews,” Genet Test, 1997, 1(1):27-33 (review). 10464622
Monaghan KG, Feldman GL, Palomaki GE, et al, and the Ashkenazi Jewish Reproductive Screening Working Group; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee, “Technical Standards and Guidelines for Reproductive Screening in the Ashkenazi Jewish Population,” Genet Med, 2008, 10(1):57-72. 18197058

Additional Information

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.

Specimen Requirements

Information on collection, storage, and volume


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

Minimum Volume

3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs


Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T25 flasks for fetal testing, or LabCorp buccal swab kit

Storage Instructions

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