Disorders


 

SLC6A5-Related Hyperekplexia


 

OMIM

GeneLocusProtein
SLC6A511p15.1Sodium- and chloride-dependent glycine transporter 2

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Medical Neurogenetics - Atlanta, GA, 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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