Disorders


 

Cystinosis


 

GeneReviewOMIM

GeneLocusProtein
CTNS17p13Cystinosin

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.

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