Test Catalog

Test ID: FANCP    
Fanconi Anemia C Mutation Analysis, IVS4(+4)A->T and 322delG, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Carrier screening for Fanconi anemia in individuals of Ashkenazi Jewish ancestry


Prenatal diagnosis of Fanconi anemia in at-risk pregnancies


Confirmation of suspected clinical diagnosis of Fanconi anemia in individuals of Ashkenazi Jewish ancestry

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Fanconi anemia is an aplastic anemia that leads to bone marrow failure and myelodysplasia or acute myelogenous leukemia. Physical findings include short stature; upper limb, lower limb, and skeletal malformations; and abnormalities of the eyes and genitourinary tract. The proteins encoded by the genes associated with Fanconi anemia may work together to repair DNA damage.


Mutations in several genes have been associated with Fanconi anemia, although 1 mutation, IVS4(+4)A->T in the FANCC gene has been shown to be common in the Ashkenazi Jewish population. The carrier rate in the Ashkenazi Jewish population is 1 in 89 and the detection rate for this mutation using this assay is greater than 99%. A second FANCC mutation, 322delG, is overrepresented in patients of Northern European ancestry.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation Provides information to assist in interpretation of the test results

An interpretive report will be provided.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

This test is not recommended as a first-tier test to diagnose Fanconi anemia in individuals of non-Ashkenazi Jewish descent. In the non-Ashkenazi Jewish population, the recommended test is cytogenetic testing in the presence of mitomycin C or diepoxybutane (DEB), which may provide useful diagnostic information.


This assay will not detect all of the mutations that cause Fanconi anemia. Therefore, the absence of a detectable mutation does not rule out the possibility that an individual is a carrier of or affected with this disease.


Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.


Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.


In rare cases, DNA alterations of undetermined significance may be identified.

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Gross SJ, Pletcher BA, Monaghan KG: Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med 2008 Jan;10(1):54-6

2. Kutler DI, Auerbach AD: Fanconi anemia in Ashkenazi Jews. Fam Cancer 2004;3(3-4):241-248

Special Instructions Library of PDFs including pertinent information and forms related to the test