Disorders


 

MATN3-Related Multiple Epiphyseal Dysplasia


Synonym(s): EDM5, Multiple Epiphyseal Dysplasia 5

 

OMIM

GeneLocusProtein
MATN32p24-p23Matrilin-3

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of select exons
 
diagenos - Osnabrueck, Germany• Sequence analysis of select exons
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of select exons
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain• Sequence analysis of select exons
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Sequence analysis of select exons
 

* 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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