Fanconi Anemia, Group C (FANCC), 2 Variants

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.

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.