Disorders


 

Witkop Syndrome


Synonym(s): Nail Dysplasia with Hypodontia, TNS, Tooth-and-Nail Syndrome

 

OMIM

GeneLocusProtein
MSX14p16.2Homeobox protein MSX-1

Laboratory Test Method Prenatal Carrier *
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Sequence analysis of the entire coding region
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
  
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
• Mutation scanning of the entire coding region
 
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain• Sequence analysis of the entire coding region
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• 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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