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Unit Code 85318:
Fanconi Anemia C Mutation Analysis, IVS4( 4)A>T and 322delG

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Useful For

Carrier testing for individuals with a family history of Fanconi anemia

 

Confirmation of clinical diagnosis of Fanconi anemia

 

Prenatal diagnosis for at-risk pregnancies

Clinical Information

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 6 genes have been associated with Fanconi anemia,

although 2 mutations within the FANCC gene have been shown to

be common in the Ashkenazi Jewish population:  322delG and

IVS4( 4)A->T. The carrier rate in the Ashkenazi Jewish population is

1/89. The carrier detection rate for these mutations using this assay is

>99%.

Reference Values

An interpretive report which will include a risk analysis (probability

of being a carrier) will be provided.

Interpretation

The report will include specimen information, pedigree (when appropriate),

assay information, test results, and interpretation of test results.

Cautions

The recommended first tier test for diagnosing Fanconi anemia is

#81332, "Chromosome Analysis, Mitomycin C Stress for Fanconi

Anemia, Blood".

 

This direct DNA 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.

 

Any error in the diagnosis of the proband or in family relationships

provided in the pedigree will lead to an erroneous segregation

pattern and an incorrect interpretation of results.

 

Medical genetic consultation is recommended for all DNA diagnosis

cases and is particularly indicated in complex cases or in situations

where the diagnosis is atypical or uncertain.

 

Bone marrow transplants from allogenic donors will interfere with testing. 

Call Mayo Medical Laboratories for instructions for testing patients who

have received a bone marrow transplant.

Special Instructions and Forms

• Molecular Genetics - Congenital Inherited Diseases Patient Information Sheet 

Clinical Reference

1.   Auerbach AD: Fanconi anemia:  Genetic testing in Ashkenazi Jews.

      Genet Test 1997;1(1):27-33

 

2.   Kutler DI, Auerbach AD:  Fanconi anemia in Ashkenazi Jews. Fam

      Cancer 2004;3(3-4):241-248

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