Disorders


 

SHOX-Related Haploinsufficiency Disorders


 

GeneReviewOMIM

GeneLocusProtein
SHOXXp22.33 and Yp11.32Short stature homeobox protein

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Inc., Cytogenetics Laboratory - Salt Lake City, UT, USA  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
bio.logis Center for Human Genetics - Frankfurt, Germany  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany  
CGC Genetics - Porto, Portugal  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany  
Esoterix, Inc., Molecular Endocrinology - Calabasas Hills, CA, USA• Mutation scanning of the entire coding region
  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Ghent University Hospital, DNA Laboratory - Ghent, Belgium  
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland  
Medgene, MedGene - Bratislava, Slovakia  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain  
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany  

* 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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