Disorders


 

Isolated Growth Hormone Deficiency, Type IA


Synonym(s): IGHD IA, IGHD1A, Pituitary Dwarfism I

 

OMIM

GeneLocusProtein
GH117q22-q24Somatotropin

Laboratory Test Method Prenatal Carrier *
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Hpital Trousseau - Assistance Publique des Hpitaux de Paris, U.F. de Gntique Molculaire - Paris, France  
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  

* 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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