Table 1.

Clinical benefits from Fanconi anemia subtyping


1  

Confirms FA diagnosis  
2   Identifies FA-D1/BRCA2 families  
3   Distinguishes FA from other FA-related chromosome breakage disorders (NBS, AT)  
4   Required for FA mutation carrier detection  
5   Required for enrollment in FA-A and FA-C gene therapy trials  
6
 
Identifies new variant forms of FA
 

1  

Confirms FA diagnosis  
2   Identifies FA-D1/BRCA2 families  
3   Distinguishes FA from other FA-related chromosome breakage disorders (NBS, AT)  
4   Required for FA mutation carrier detection  
5   Required for enrollment in FA-A and FA-C gene therapy trials  
6
 
Identifies new variant forms of FA
 

AT indicates ataxia telangiectasia.

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