Disorders

COL4A1-Related Disorders

Gene	Locus	Protein
COL4A1	13q34	Collagen alpha-1(IV) chain

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
GGA - Galil Genetic Analysis - Kazerin, Israel
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain

^* 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.