Use

Fanconi anemia group C is associated with significant clinical manifestations, including short stature, abnormal skin pigmentation, and multiple congenital malformations which may affect various organs such as the eyes, ears, heart, and kidneys. Individuals may also experience developmental delays and progressive bone marrow failure, typically occurring within the first decade of life. This condition notably increases the risk of hematologic and non-hematologic malignancies. The test is designed for carrier screening or diagnostic testing for individuals of Ashkenazi Jewish descent, where the incidence rate is higher.