Disorders

COL2A1-Related Stickler Syndrome

Synonym(s): Stickler Syndrome Type I

Gene	Locus	Protein
COL2A1	12q12-q13.2	Collagen alpha-1(II) chain

Laboratory	Test Method	Prenatal	Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain	• Linkage analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
bio.logis Center for Human Genetics - Frankfurt, Germany
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
Connective Tissue Gene Tests - Allentown, PA, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Tulane University Health Sciences Center, Matrix DNA Diagnostics - New Orleans, LA, USA

^* 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.