Fanconi Anemia Group C: FANCC Recurrent Mutations

Alternate test name

FANCC; Fanconi pancytopenia type 3

Gene name / Alternate gene name

FANCC

Protein

Fanconi anemia, complementation group C

Lab area

Genome Diagnostics - Molecular Genetics

Method and equipment

Targeted analysis of recurrent mutations

Expected turn-around time

Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks

Specimen type

Blood; gDNA.

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

Specimen requirements

Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
DNA-minimum 10 ug in 100 uL low TE (pH8.0)

Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information

The Hospital for Sick Children

Division of Genome Diagnostics

555 University Avenue, Black Wing, Room 3416

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200 ext. 2

Hours: Monday to Friday, 8 a.m. to 4:30 p.m.

Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642

Email Molecular Lab: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Fanconi Anemia Group C: FANCC Recurrent Mutations - requisition

Background and 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.

See related information sheet: Ashkenazi Jewish Screening Panel

Disease condition

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