#ExistInterpData>Background information for Fanconi Anemia, Group C (FANCC) 2 Mutations, Fetal:
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 ~20 percent and ~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 detected: 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.
For quality assurance purposes, ARUP Laboratories will confirm the above result at no charge following delivery. Order Confirmation of Fetal Testing and include a copy of the original fetal report (or the mother's name and date of birth) with the test submission. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to specimen submission.
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
Fetal Cell Contamination (FCC): 81265