Disorders


 

Hereditary Neuropathy with Liability to Pressure Palsies


Synonym(s): Hereditary Pressure Sensitive Neuropathy, HNPP, Tomaculous Neuropathy

 

GeneReviewOMIM

GeneLocusProtein
PMP2217p12Peripheral myelin protein 22

Laboratory Test Method Prenatal Carrier *
2nd School of Medicine Charles University - Department of Child Neurology, DNA Laboratory - Praha 5, Czech Republic  
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• FISH-interphase
  
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada  
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey  
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
CGC Genetics - Porto, Portugal  
Children's Hospital of Eastern Ontario, Molecular Genetics Diagnostic Laboratory - Ottawa, Canada  
Children's University Hospital, Human Genetics - Berne, Switzerland  
Cyprus Institute of Neurology and Genetics, Neurogenetics Department - Ayios Dhometios, Cyprus• Linkage analysis
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
Diagnostic Services of Manitoba, Health Sciences Centre site, Molecular Diagnostic Laboratory - Winnipeg, Canada  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany  
GENDA - Ciudad autonoma de Buenos Aires, Argentina  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
INTA University of Chile, Molecular Cytogenetic Laboratory - Santiago, Chile  
InVitae Corporation - San Francisco, CA, USA  
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand  
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada  
Medgene, MedGene - Bratislava, Slovakia  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Ruhr University, Human Genetics - Bochum, Germany  
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain  
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain  
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany  
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland  
University of Bonn, Institute of Human Genetics - Bonn, Germany  
University of Turku, Diagnostic DNA Laboratory - Turku, Finland  

* 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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