Disorders


 

Cystinuria


Synonym(s): CSNU1, CSNU3, Cystinuria, Type I, Cystinuria, Type II, Cystinuria, Type III

 

OMIM

GeneLocusProtein
SLC7A919q13.11Neutral and basic amino acid transport protein rBAT

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA• Analyte
  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Analyte
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Analyte
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
 
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
 
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA• Analyte
 
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA• Analyte
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA• Analyte
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand• Sequence analysis of the entire coding region
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Biochemical Genetics - New York, NY, USA• Analyte
Novogenia - Mondsee, Austria• Sequence analysis of the entire coding region
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA• Analyte
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA• Analyte
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA• Analyte
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA• Analyte
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA• Analyte
University of Maryland, Pediatric Biochemical Genetics Laboratory - Baltimore, MD, USA• Analyte
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA• Analyte
Yale University School of Medicine, Biochemical Disease Detection Laboratory - New Haven, CT, USA• Analyte

* 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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