Disorders


 

GNE-Related Myopathy


Synonym(s): Distal Myopathy with Rimmed Vacuoles, DMRV, Hereditary Inclusion Body Myopathy 2, HIBM, Nonaka Myopathy

 

GeneReviewOMIM

GeneLocusProtein
GNE9p13.1Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Laboratory Test Method Prenatal Carrier *
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Targeted mutation analysis
 
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA• Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Hadassah-Hebrew University Medical Center, Molecular Biology - Goldyne Savad Institute of Gene Therapy - Jerusalem, Israel• Sequence analysis of the entire coding region
• Targeted mutation analysis
HIBM Research Group - Reseda, CA, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
Innovagenomics S.L, Innovagenomics - Salamanca, Spain• Mutation scanning of the entire coding region
National Center of Neurology and Psychiatry, Department of Neuromuscular Research - National Institute of Neuroscience - Kodaira, Japan• 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
 
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
Ruhr University, Human Genetics - Bochum, Germany• Sequence analysis of the entire coding region
 
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea• Sequence analysis of the entire coding region
 
University of California Los Angeles, UCLA Orphan Disease Testing Center (ODTC) - Los Angeles, CA, USA• Targeted mutation analysis
 

* 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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