Disorders


 

GLI2-Related Holoprosencephaly


Synonym(s): Holoprosencephaly 9, HPE9, Pituitary Anomalies with Holoprosencephaly-Like Features

 

OMIM

GeneLocusProtein
GLI22q14Zinc finger protein GLI2

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Hpital Trousseau - Assistance Publique des Hpitaux de Paris, U.F. de Gntique Molculaire - Paris, France• Sequence analysis of the entire coding region
 
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• 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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