Disorders


 

Niemann-Pick Disease Type C2


 

OMIM

GeneLocusProtein
NPC214q24.3Epididymal secretory protein E1

Laboratory Test Method Prenatal Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
CGC Genetics - Porto, Portugal• Targeted mutation analysis
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GeneDx - Gaithersburg, MD, USA  
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic  
GSTS Pathology, DNA Laboratory - London, Great Britain  
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany  
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain  
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA  
Medgene, MedGene - Bratislava, Slovakia  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Ruhr University, Human Genetics - Bochum, Germany  
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia  
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany  
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA  

* 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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