The following labs currently test for fanconi syndrome by DNA test. The disease is autosomal recessive with normal, carrier and affected results.

Disease Gene Mutation Information
Mutation: 321bp deletion
Gene: FAN1
OMIM: 134600,227810
OMIA: 000366-9615
Chromosome: 3
Research Link: http://www.ashg.org/2012meeting/abstracts/fulltext…

 

 

Posted in: Fanconi Syndrome, Health & Wellbeing, Testing Laboratories & Clinics