Disorders


 

Hyperoxaluria, Primary, Type 2


Synonym(s): D-glycerate Dehydrogenase Deficiency, Glyoxylate Reductase Deficiency, Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency, Hyperoxaluria, Primary, Type II, L-glyceric Aciduria

 

GeneReviewOMIM

GeneLocusProtein
GRHPR9q12Glyoxylate reductase/hydroxypyruvate reductase

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
 
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
Centre de Biologie Est - Hospices Civils de Lyon, Maladies hrditaires du mtabolisme - Bron cedex, France• Sequence analysis of the entire coding region
• Analyte
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Analyte
Cologne University, Institute of Human Genetics - Cologne, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA• Analyte
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA• Analyte
UCL Hospitals, Clinical Biochemistry Laboratory - London, Great Britain• Sequence analysis of the entire coding region
• Linkage analysis
• Analyte
• Enzyme assay
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, 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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