Disorders


 

Retinoblastoma


 

GeneReviewOMIM

GeneLocusProtein
RB113q14.2Retinoblastoma-associated protein

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA  
Barts Health NHS Trust, Retinoblastoma Genetic Screening Unit - London, Great Britain• Mutation scanning of the entire coding region
• Linkage analysis
  
CGC Genetics - Porto, Portugal  
Cincinnati Children's Hospital Medical Center, Cytogenetics Laboratory - Cincinnati, OH, USA• FISH-metaphase
  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Greenwood Genetic Center, Clinical Cytogenetics Laboratory - Greenwood, SC, USA• FISH-metaphase
• FISH-interphase
  
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland  
Impact Genetics, Retinoblastoma Solutions - Molecular Diagnostic Laboratory - Toronto, Canada• Mutation scanning of the entire coding region
• Targeted mutation analysis
• Linkage analysis
  
Innovagenomics S.L, Innovagenomics - Salamanca, Spain• Mutation scanning of the entire coding region
  
Institut fur Humangenetik - Universitaetsklinikum Essen, Eye Oncogenetics Research Group - Essen, Germany• Sequence analysis of select exons
• Mutation scanning of the entire coding region
• Linkage analysis
  
Institute of Medical and Veterinary Science, Molecular Pathology - Adelaide, Australia• FISH-metaphase
  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland  
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel• Linkage analysis
  
Shodair Children's Hospital, Genetics Laboratory - Helena, MT, USA• FISH-metaphase
• FISH-interphase
  
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Linkage analysis
• FISH-metaphase
• FISH-interphase
  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain  
Tulane University School of Medicine, Hayward Genetics Center Cytogenetics Lab - New Orleans, LA, USA• FISH-metaphase
  
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA• FISH-metaphase
• FISH-interphase
  
University of Nebraska Medical Center, Human Genetics Laboratory, Munroe-Meyer Institute - Omaha, NE, USA• FISH-metaphase
• FISH-interphase
  
University of Pennsylvania School of Medicine, Genetic Diagnostic Laboratory - Philadelphia, PA, USA• Linkage 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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