Disorders


 

Spondylometaphyseal Dysplasia, Kozlowski Type


Synonym(s): SMD, Kozlowski Type, SMDK

 

OMIM

GeneLocusProtein
TRPV412q24.1Transient receptor potential cation channel subfamily V member 4

Laboratory Test Method Prenatal Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Sequence analysis of select exons
  
CeGaT GmbH - Tuebingen, Germany  
CGC Genetics - Porto, Portugal  
Connective Tissue Gene Tests - Allentown, PA, USA  
diagenos - Osnabrueck, Germany  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of select exons
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  

* 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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