- 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
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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: PathogenicFANCC gene mutations.
Mutations Tested: p.D23Ifs (c.67delG) and c.456+4A>T.
Clinical Sensitivity: 99 percent in Ashkenazi Jewish individuals, unknown in other ethnicities.
Methodology: Multiplex polymerase chain reaction and Detection Primer Extension.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Mutations other than those tested 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) 2 Mut, Allele 1|
|0051472||Fanconi Anemia C (FANCC) 2 Mut, Interp|
|0051474||Fanconi Anemia C (FANCC) 2 Mut, Allele 2|
|2001309||Fanconi Anemia C (FANCC) 2 Mut, Specimen|
- Fanconi anemia, complementation group C