Fanconi Anemia Group C: FANCC Recurrent Mutations
FANCC; Fanconi pancytopenia type 3
For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
If sample shipment >48 hours, ship on ice.
Fanconi anemia (FA) is a clinically and genetically heterogeneous condition. Both interfamilial and intrafamilial clinical heterogeneity has been reported. Clinical findings in individuals with FA include: anemia, progressive pancytopenia; abnormal skin pigmentation; short stature; and/or multiple malformations of the skeletal and organ systems. Individuals with FA are at increased risk for leukemias and solid tumours. Fancioni anemia group C (FA-C) is the most common form of FA seen in the AJ population. FA-C is an AR disorder caused by mutations in the FANCC gene, located on chromosome 9 (9q22.3). Two mutations in the FANCC gene account for 99% of the mutations seen in AJ individuals affected with FA-C.
See related information sheet: Ashkenazi Jewish Screening Panel
Fanconi Anemia Group C (part of the Ashkenazi Jewish screening panel)
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