Disorders


 

Glycogen Storage Disease Type Ib


Synonym(s): Glucose-6-Phosphate Translocase Defect, GSD Ib, GSDIb

 

OMIM

GeneLocusProtein
SLC37A411q23.3Glucose-6-phosphate translocase

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
CGC Genetics - Porto, Portugal• Targeted mutation analysis
Duke University Health System, Glycogen Storage Disease Laboratory - Durham, NC, USA• Sequence analysis of the entire coding region
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA• Sequence analysis of the entire coding region
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
GSTS Pathology, DNA Laboratory - London, Great Britain• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• Sequence analysis of the entire coding region
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic• Sequence analysis of the entire coding region

* 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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