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Test Code 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.

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

Reporting Name

Fanconi Anemia, Mutation Analysis

Specimen Type


Additional Testing Requirements

All prenatal specimens must be accompanied by a maternal blood specimen.

-Order MATCC / Maternal Cell Contamination, Molecular Analysis on the maternal specimen.

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

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.

Specimen Required

Patient Preparation: 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.


Submit only 1 of the following specimens:


Specimen Type: Whole blood


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


Prenatal Specimens

Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.


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



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

Reject Due To

Note: No specimen should be rejected. If specimen not received at appropriate temperature or in wrong anticoagulant, include note to laboratory. If questions, contact laboratory.

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

Reference Values

An interpretive report will be provided.


An interpretive report will be provided.


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.

Method Description

A laboratory-developed multiplex PCR-based assay is used to detect the following mutations in the FANCC gene: 322delG and IVS4(+4)A->T.(Fulton R, McDade R, Smith P, et al: Advanced multiplexed analysis with the FlowMetrix system. Clin Chem 1997;43:1749-1756; Ye F, Li MS, Taylor JD, et al: Fluorescent microsphere-based readout technology for multiplexed human single nucleotide polymorphism analysis and bacterial identification. Hum Mutat 2001;17[4]:305-316)

Day(s) and Time(s) Performed

Tuesday; 10 a.m.

Analytic Time

9 days

Specimen Retention Time

Whole Blood: 2 weeks (if available) Extracted DNA: 3 months

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics 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)

88240-Cryopreservation (if appropriate)


Maternal Cell Contamination, B

81265-Comparative analysis using Short Tandem Repeat (STR) markers; patient and comparative specimen (eg, pre-transplant recipient and donor germline testing, post-transplant non-hematopoietic recipient germline [eg, buccal swab or other germline tissue sample] and donor testing, twin zygosity testing or maternal cell contamination of fetal cells (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
FANCP Fanconi Anemia, Mutation Analysis In Process


Result ID Test Result Name Result LOINC Value
53150 Result Summary 50397-9
53151 Result 32639-7
53152 Interpretation 69047-9
52427 Additional Information 48767-8
53153 Reason for Referral 42349-1
53154 Specimen 31208-2
53155 Source 31208-2
53156 Released By 18771-6


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.