Disorders


 

Neurofibromatosis 1


Synonym(s): NF 1, NF1, Peripheral Neurofibromatosis, Von Recklinghausen Disease, Von Recklinghausen's Neurofibromatosis

 

GeneReviewOMIM

GeneLocusProtein
NF117q11.2Neurofibromin

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA  
ATG-GenMed - Berlin, Germany  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• FISH-metaphase
  
bio.logis Center for Human Genetics - Frankfurt, Germany  
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA  
Brigham and Women's Hospital, Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory - Boston, MA, USA• FISH-metaphase
  
CeGaT GmbH - Tuebingen, Germany  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany  
Center for Human Genetics, Inc - Cambridge, MA, USA  
Centogene AG, Rare Disease Company - Rostock, Germany  
CGC Genetics - Porto, Portugal  
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
  
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA• Linkage analysis
• FISH-interphase
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany• Mutation scanning of the entire coding region
  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany  
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland  
Innovagenomics S.L, Innovagenomics - Salamanca, Spain• Mutation scanning of the entire coding region
  
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain  
Institute of Predictive and Personalized Medicine of Cancer (IMPPC), Genetic Diagnostics for Hereditary Cancer Unit - Badalona, Spain• Linkage analysis
  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Linkage analysis
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Medgene, MedGene - Bratislava, Slovakia  
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA  
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA• FISH-metaphase
• FISH-interphase
  
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Ruhr University, Human Genetics - Bochum, Germany  
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel• Linkage analysis
  
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Linkage analysis
  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain  
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany  
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA• FISH-metaphase
  

* 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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