Disorders


 

Partial Isolated Growth Hormone Deficiency


Synonym(s): Partial IGHD

 

OMIM

GeneLocusProtein
GHSR3q26.31Growth hormone secretagogue receptor type 1

Laboratory Test Method Prenatal Carrier *
Hpital Trousseau - Assistance Publique des Hpitaux de Paris, U.F. de Gntique Molculaire - Paris, France• Sequence analysis of the entire coding region
  
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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