Disorders


 

Pitt-Hopkins-Like Syndrome 2


Synonym(s): PTHSL2

 

OMIM

GeneLocusProtein
NRXN12p16.3Neurexin-1-alpha

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GGA - Galil Genetic Analysis - Kazerin, Israel  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  

* 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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