Ordering Recommendation

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

Mnemonic
FANCC
Methodology

Polymerase Chain Reaction/Fluorescence Monitoring

Performed

Tue, Fri

Reported

5-10 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

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

Specimen Preparation

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

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month

Reference Interval

By report

Interpretive Data

Background information for Fanconi Anemia, Group C (FANCC), 2 Variants:
Characteristics:
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.
Incidence:
1 in 32,000 Ashkenazi Jewish individuals.
Inheritance:
Autosomal recessive.
Cause:
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.
Methodology:
Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Limitations:
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.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81242

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