Carrier screening or diagnostic testing for Fanconi anemia group C for individuals of Ashkenazi Jewish descent.
- 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.
- Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month
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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|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|
- Fanconi anemia, complementation group C