Disorders


 

Septooptic Dysplasia


Synonym(s): De Morsier Syndrome

 

OMIM

GeneLocusProtein
HESX13p14.3Homeobox expressed in ES cells 1

Laboratory Test Method Prenatal Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands• Sequence analysis of the entire coding region
 
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA• Sequence analysis of the entire coding region
 
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany• Sequence analysis of the entire coding region
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
 
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany• Sequence analysis of the entire coding region

* 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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