Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Barts Health NHS Trust, Retinoblastoma Genetic Screening Unit - London, Great Britain	• Mutation scanning of the entire coding region • Linkage analysis • Methylation analysis • Deletion/duplication analysis
CGC Genetics - Porto, Portugal	• Sequence analysis of the entire coding region • Deletion/duplication analysis
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	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GGA - Galil Genetic Analysis - Kazerin, Israel	• Sequence analysis of the entire coding region
Greenwood Genetic Center, Clinical Cytogenetics Laboratory - Greenwood, SC, USA	• FISH-metaphase • FISH-interphase
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Sequence analysis of the entire coding region
Impact Genetics, Retinoblastoma Solutions - Molecular Diagnostic Laboratory - Toronto, Canada	• Sequence analysis of the entire coding region • Mutation scanning of the entire coding region • Targeted mutation analysis • Linkage analysis • Methylation analysis • Deletion/duplication analysis
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region • Deletion/duplication analysis
Institut fur Humangenetik - Universitaetsklinikum Essen, Eye Oncogenetics Research Group - Essen, Germany	• Sequence analysis of the entire coding region • Sequence analysis of select exons • Mutation scanning of the entire coding region • Linkage analysis • Methylation analysis • Deletion/duplication analysis
Institute of Medical and Veterinary Science, Molecular Pathology - Adelaide, Australia	• Sequence analysis of the entire coding region • Methylation analysis • FISH-metaphase • Deletion/duplication analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Sequence analysis of the entire coding region
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
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
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 • Deletion/duplication analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
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	• Sequence analysis of the entire coding region • Linkage analysis • Methylation analysis • 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.