Disorders


 

Nephrotic Syndrome Type 3


Synonym(s): NPHS3

 

OMIM

GeneLocusProtein
PLCE110q231-phosphatidylinositol-4,5-bisphosphate phosphodiesterase epsilon-1

Laboratory Test Method Prenatal Carrier *
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• Sequence analysis of the entire coding region
Cologne University, Institute of Human Genetics - Cologne, Germany• Sequence analysis of the entire coding region
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region

* 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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