Disorders


 

Krabbe Disease, Atypical, due to Saposin A Deficiency


Synonym(s): Saposin A Deficiency

 

OMIM

GeneLocusProtein
PSAP10q21-q22Proactivator polypeptide

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany  
GeneDx - Gaithersburg, MD, USA  
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.

Loading...