Ordering Recommendation

Carrier screening or diagnostic testing for Fanconi anemia group C for individuals of Ashkenazi Jewish descent.


Polymerase Chain Reaction/Fluorescence Monitoring


Tue, Fri


5-10 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature


Unacceptable Conditions

Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.


Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month

Reference Interval

By report

Interpretive Data

Background information for Fanconi Anemia, Group C (FANCC), 2 Variants:
Fanconi anemia, group C is characterized by the following symptoms: short stature, abnormal skin pigmentation, and multiple malformations that may affect eyes, ears, heart, oral cavity, thumbs, forearms, kidneys, or urinary tract. Other symptoms may include hearing loss, hypogonadism, and developmental delay. Progressive bone marrow failure occurs during the first decade of life. Hematologic malignancies occur in approximately 20 percent of affected individuals. Nonhematologic malignancies occur in approximately 30 percent of affected individuals.
1 in 32,000 Ashkenazi Jewish individuals.
Autosomal recessive.
FANCC pathogenic variants.
Variants Tested:
p.D23Ifs (c.67delG) and c.456+4A>T.
Clinical Sensitivity:
99 percent in Ashkenazi Jewish individuals, unknown in other ethnicities.
Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Variants other than p.D23Ifs (c.67delG) and c.456+4A>T will not be detected. Diagnostic errors can occur due to rare sequence variations.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)


Hotline History


CPT Codes



Component Test Code* Component Chart Name LOINC
0051470 Fanconi Anemia C (FANCC), Allele 1
0051472 Fanconi Anemia C (FANCC), Interp
0051474 Fanconi Anemia C (FANCC), Allele 2
2001309 Fanconi Anemia C (FANCC), Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • Fanconi anemia, complementation group C
Fanconi Anemia, Group C (FANCC), 2 Variants