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• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
ATG-GenMed - Berlin, Germany• 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-metaphase
 
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Deletion/duplication analysis
 
Brigham and Women's Hospital, Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory - Boston, MA, USA• FISH-metaphase
 
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Center for Human Genetics, Bioscientia GmbH - Ingelheim, 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
 
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
• Deletion/duplication analysis
 
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA• Sequence analysis of the entire coding region
• Linkage analysis
• FISH-interphase
• Deletion/duplication analysis
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
diagenos - Osnabrueck, Germany• Mutation scanning of the entire coding region
• Deletion/duplication analysis
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany• 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
 
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Sequence analysis of the entire coding region
 
Innovagenomics S.L, Innovagenomics - Salamanca, Spain• Mutation scanning of the entire coding region
• Deletion/duplication analysis
 
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Institute of Predictive and Personalized Medicine of Cancer (IMPPC), Genetic Diagnostics for Hereditary Cancer Unit - Badalona, Spain• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• 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
 
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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• 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 of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA• Sequence analysis of the entire coding region
• FISH-metaphase
• 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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