Disorders


 

Glutathione Synthetase Deficiency


Synonym(s): 5-Oxoprolinuria, Pyroglutamic Aciduria, Pyroglutamicaciduria

 

OMIM

GeneLocusProtein
GSS20q11.2Glutathione synthetase

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
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
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Enzyme assay
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
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
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
National Health Laboratory Services, Inherited Metabolic Diseases - Cape Town, South Africa• Sequence analysis of the entire coding region
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• Sequence analysis of the entire coding region
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

* 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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