Disorders


 

Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency


Synonym(s): Homocystinuria, Cystathionine Beta-Synthase Deficiency

 

GeneReviewOMIM

GeneLocusProtein
CBS21q22.3Cystathionine beta-synthase

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Molecular Medicine - Aarhus, Denmark  
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA• Analyte
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Analyte
  
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
  
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA• Analyte
  
Centogene AG, Rare Disease Company - Rostock, Germany• Analyte
  
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Enzyme assay
  
Connective Tissue Gene Tests - Allentown, PA, USA  
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
  
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
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
  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GeneDx - Gaithersburg, MD, USA  
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of select exons
• Targeted mutation analysis
  
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA• Analyte
  
GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust, Molecular Haemostasis and Thrombosis - London, Great Britain• Sequence analysis of select exons
  
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
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
  
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA• Analyte
  
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA• Analyte
  
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA• Analyte
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands• Targeted mutation analysis
• Enzyme assay
  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA• Analyte
  
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Analyte
• Enzyme assay
  
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 Miami Miller School of Medicine, Biochemical Genetics Diagnostic Laboratory - Miami, FL, USA• Analyte
  
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA• Analyte
  
University of Minnesota, University of Minnesota Physicians Outreach Laboratory - Minneapolis, MN, USA• Targeted mutation analysis
  
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands• Analyte
• Enzyme assay
  
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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