Disorders


 

Achondrogenesis Type IA


Synonym(s): ACG1A, Achondrogenesis Type 1A, Achondrogenesis, Houston-Harris Type

 

OMIM

GeneLocusProtein
TRIP1114q31-q32Thyroid receptor-interacting protein 11

Laboratory Test Method Prenatal Carrier *
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• 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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