Disorders

Metaphyseal Chondrodysplasia, Schmid Type

Synonym(s): MCDS, Schmid Metaphyseal Chondrodysplasia

Gene	Locus	Protein
COL10A1	6q21-q22	Collagen alpha-1(X) chain

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
bio.logis Center for Human Genetics - Frankfurt, Germany	• Sequence analysis of select exons
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Connective Tissue Gene Tests - Allentown, PA, USA	• Sequence analysis of select exons
GENETAQ, Molecular Genetics Centre - Malaga, Spain
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
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.