#ExistInterpData>Background information for Fanconi Anemia, Group C (FANCC) 2 Mutations:
Characteristics: Short stature, abnormal skin pigmentation, and multiple malformations including: eyes, ears, heart, oral cavity, thumbs, forearms, kidneys, urinary tract, hearing loss, hypogonadism, and developmental delay. Progressive bone marrow failure occurs during the first decade of life. Hematologic and nonhematologic malignancies occur in approximately 20 percent and approximately 30 percent of those affected, respectively.
Incidence: 1 in 32,000 Ashkenazi Jewish individuals; unknown in other ethnicities.
Inheritance: Autosomal recessive.
Cause: Deleterious FANCC gene mutations.
Mutations Tested: 322delG and IVS4(+4)A>T.
Clinical Sensitivity: 99 percent in Ashkenazi Jewish individuals, unknown in other ethnicities.
Methodology: PCR and allele-specific primer extension by bead array with fluorescence detection.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Mutations other than 322delG and IVS4(+4)A>T will not be detected. Rare diagnostic errors may occur due to primer site mutations.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS