Disorders


 

PLP1-Related Disorders


 

GeneReviewOMIM

GeneLocusProtein
PLP1Xq22Myelin proteolipid protein

Laboratory Test Method Prenatal Carrier *
2nd School of Medicine Charles University - Department of Child Neurology, DNA Laboratory - Praha 5, Czech Republic• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Center for Human Genetics, Inc - Cambridge, MA, 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
• Deletion/duplication analysis
CGC Genetics - Porto, Portugal• Deletion/duplication analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Sequence analysis of the entire coding region
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
InVitae Corporation - San Francisco, CA, USA• Sequence analysis of the entire coding region
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Novogenia - Mondsee, Austria• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Deletion/duplication analysis
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany• 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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