Fanconi Anemia, Group C (FANCC), 2 Variants
Also known as: FANCC
Use
Fanconi anemia group C is associated with significant clinical manifestations, including short stature, abnormal skin pigmentation, and multiple congenital malformations which may affect various organs such as the eyes, ears, heart, and kidneys. Individuals may also experience developmental delays and progressive bone marrow failure, typically occurring within the first decade of life. This condition notably increases the risk of hematologic and non-hematologic malignancies. The test is designed for carrier screening or diagnostic testing for individuals of Ashkenazi Jewish descent, where the incidence rate is higher.
Special Instructions
Counseling and informed consent are recommended prerequisites before genetic testing for Fanconi anemia group C. For patients in New York, informed consent is required upon submission of the test order. The test is specifically approved for use in New York State.
Limitations
The test is limited to detecting the two specific variants p.D23Ifs (c.67delG) and c.456+4A>T within the FANCC gene. Variants other than these will not be identified, and diagnostic errors can occur due to rare sequence variations. The clinical sensitivity is high (99%) in persons of Ashkenazi Jewish descent but unknown in other ethnic groups.
New York Approved
Methodology
PCR-based
Biomarkers
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)
Storage Instructions
Refrigerated transport is preferred.
Causes for Rejection
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3 days |
| Refrigerated | 1 week |
| Frozen | 1 month |