Disorders


 

Nephrotic Syndrome, Type 5, with or without Ocular Abnormalities


Synonym(s): NPHS5

 

OMIM

GeneLocusProtein
LAMB23p21.3-p21.2Laminin subunit beta-2

Laboratory Test Method Prenatal Carrier *
Cologne University, Institute of Human Genetics - Cologne, Germany• 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.

Loading...