Disorders

Cystinosis

Gene	Locus	Protein
CTNS	17p13	Cystinosin

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Analyte
Centogene AG, Rare Disease Company - Rostock, Germany	• Targeted mutation analysis
Centre de Biologie Est - Hospices Civils de Lyon, Maladies hrditaires du mtabolisme - Bron cedex, France
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague, Czech Republic
Children's Hospital of Eastern Ontario, Molecular Genetics Diagnostic Laboratory - Ottawa, Canada	• Targeted mutation analysis
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Targeted mutation analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Targeted mutation analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Targeted mutation analysis
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Targeted mutation analysis • Analyte
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA	• Analyte
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA	• Targeted mutation analysis

^* 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.