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