Disorders


 

Metaphyseal Chondrodysplasia, Schmid Type


Synonym(s): MCDS, Schmid Metaphyseal Chondrodysplasia

 

OMIM

GeneLocusProtein
COL10A16q21-q22Collagen alpha-1(X) chain

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
 
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of select exons
 
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Sequence analysis of the entire coding region
 
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
 
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of select exons
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Tulane University Health Sciences Center, Matrix DNA Diagnostics - New Orleans, LA, USA• 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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