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

Useful For

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

Reflex Tests

Test ID	Reporting Name	Available Separately	Always Performed
CULFB	Fibroblast Culture for Genetic Test	Yes	No
CULAF	Amniotic Fluid Culture/Genetic Test	Yes	No
MATCC	Maternal Cell Contamination, B	Yes	No

Testing Algorithm

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.

Special Instructions

Method Name

Polymerase Chain Reaction (PCR) analysis is used to test for the following mutations associated with Fanconi anemia: 322delG and IVS4(+4)A->T.

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name

Fanconi Anemia, Mutation Analysis

Specimen Type

Varies

Forms:

1. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

Specimen preferred to arrive within 96 hours of collection.

Submit only 1 of the following specimens:

Specimen Type: Whole blood

Container/Tube:

Preferred: Yellow top (ACD) or lavender top (EDTA)

Acceptable: Any anticoagulant

Specimen Volume: 2.6 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated/Frozen

Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing. Prenatal specimens can be sent Monday through Thursday and must be received by 5 p.m. CST on Friday in order to be processed appropriately. All prenatal specimens must be accompanied by a maternal blood specimen. Order MATCC / Maternal Cell Contamination, Molecular Analysis on the maternal specimen.

Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20 mL

Specimen Stability Information: Refrigerated (preferred)/Ambient

Specimen Type: Chorionic villi

Container/Tube: 15 mL tube containing 15 mL of transport media

Specimen Volume: 20 mg

Specimen Stability Information: Refrigerated

Acceptable:

Specimen Type: Confluent cultured cells

Container/Tube: T-25 flask

Specimen Volume: 2 flasks

Collection Instructions: Submit confluent cultured cells from another laboratory.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Specimen Minimum Volume

Blood: 0.5 mL/Amniotic Fluid: 10 mL/Chorionic Villi: 5 mg

Specimen Stability Information

Specimen Type	Temperature	Time
Varies	Varies

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 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 >99%. A second FANCC mutation, 322delG, is overrepresented in patients of Northern European ancestry.

Reference Values

An interpretive report will be provided.

Cautions

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.

A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

Day(s) Performed

Tuesday; 10 a.m.

Report Available

3 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81242-FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia, type C) gene analysis, common variant (eg, IVS4+4A->T)

Fibroblast Culture for Genetic Test

88233-Tissue culture, skin or solid tissue biopsy (if appropriate)

88240-Cryopreservation (if appropriate)

Amniotic Fluid Culture/Genetic Test

88235-Tissue culture for amniotic fluid (if appropriate)