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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.

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

Reporting Name

Fanconi Anemia, Mutation Analysis

Specimen Type

Varies

Specimen Required

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

 

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

 

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

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Tuesday; 10 a.m.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

The 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)

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 In Process
52427 Additional Information 48767-8
53153 Reason for Referral 42349-1
53154 Specimen 31208-2
53155 Source 31208-2
53156 Released By No LOINC Needed

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.

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.

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.