Disorders

COL11A1-Related Stickler Syndrome

Synonym(s): Stickler Syndrome Type II

Gene	Locus	Protein
COL11A1	1p21	Collagen alpha-1(XI) chain

Laboratory	Test Method	Prenatal	Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain	• Linkage analysis
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
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.