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Paediatric Laboratory Medicine

Fanconi Anemia Group C: FANCC Recurrent Mutations

Clinical Significance

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.

Test Name

Fanconi Anemia Group C: FANCC Recurrent Mutations

Alternate Name/ Synonym

  • FANCC
  • Fanconi pancytopenia type 3

Gene Name

  • FANCC

Test Code

FANCC

Division

Molecular Genetics

Method

Targeted analysis of recurrent mutations

External Proficiency Testing

CAP

Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)

Protein

Fanconi anemia, complementation group C

Disease/Condition

Fanconi Anemia Group C (part of the Ashkenazi Jewish screening panel)

Specimen Type

Blood; gDNA. 

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Minimum Specimen Requirements

5-10 mL EDTA or ACD 0.5 mL EDTA (neonate); minimum 10 ug in 100 uL low TE (pH8.0)

Storage/Transportation

Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes

81479

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Interpretation

Interpretation is provided in report