Stanford Health Care
About Stanford Clinical LaboratoryLicensureContact Us

Home
Test Directory

Test Requisitions Specimen Collection
Critical Values
Administrative Department
Clinical DepartmentsDepartment of PathologyEsoteric DepartmentsFeatured Services



CYTOGENETIC STUDY, CHROMOSOME BREAKAGE FOR FANCONI ANEMIA

Test Code: CG FANCONI
General Information:

Fanconi anemia (FA) is a rare, autosomal recessive condition characterized by growth retardation, thumb abnormalities/radial aplasia, pigmentary anomalies and hematological disorders, including eventually MDS and AML. FA patients have a DNA repair defect that leads to an increased rate of spontaneous chromosomal breakage. When FA patients’ blood is exposed to mitomycin C (MMC) and/or diepoxybutane (DEB), there is a dramatic increase in the rate of chromosomal breaks, as well as the formation of chromosomal radial figures.

 

Indications:

Individuals clinically suspected of being affected with FA.

 


 
 


 
Home | About Stanford Clinical Laboratories | Careers | Contact Us | Legal Notices & Disclaimer