Disorders


 

Aniridia, Cerebellar Ataxia, And Mental Retardation


Synonym(s): Gillespie Syndrome

 

OMIM

GeneLocusProtein
PAX611p13Paired box protein Pax-6

Laboratory Test Method Prenatal Carrier *
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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