Laboratory	Test Method	Prenatal	Carrier *
Aachen, RWTH, Institute of Human Genetics - Aachen, Germany	• Sequence analysis of the entire coding region • Methylation analysis • Uniparental disomy study (UPD)
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands	• Sequence analysis of the entire coding region • Methylation analysis • Uniparental disomy study (UPD) • Deletion/duplication analysis
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada	• Methylation analysis • Uniparental disomy study (UPD) • Deletion/duplication analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• FISH-metaphase • FISH-interphase
bio.logis Center for Human Genetics - Frankfurt, Germany	• Sequence analysis of the entire coding region • Methylation analysis • Uniparental disomy study (UPD) • Deletion/duplication analysis
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Sequence analysis of the entire coding region • Methylation analysis • Uniparental disomy study (UPD)
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Methylation analysis • Deletion/duplication analysis
CGC Genetics - Porto, Portugal	• Methylation analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
diagenos - Osnabrueck, Germany	• Sequence analysis of the entire coding region • Methylation analysis • Deletion/duplication analysis
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of the entire coding region • Methylation analysis • Uniparental disomy study (UPD) • Deletion/duplication analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Methylation analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Methylation analysis • Uniparental disomy study (UPD)
GGA - Galil Genetic Analysis - Kazerin, Israel	• Sequence analysis of the entire coding region
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada	• Sequence analysis of the entire coding region • Methylation analysis • Uniparental disomy study (UPD) • Deletion/duplication analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of the entire coding region • Methylation analysis • Uniparental disomy study (UPD) • Deletion/duplication analysis
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden	• Linkage analysis • Methylation analysis • Uniparental disomy study (UPD) • Deletion/duplication analysis
Kennedy Center, Juliane Marie Center, Rigshospitalet, Medical Genetics Laboratory - Glostrup, Denmark	• Sequence analysis of the entire coding region • Methylation analysis • Uniparental disomy study (UPD)
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
LabCorp, Clinical Cytogenetics Laboratory - Research Triangle Park, NC, USA	• Uniparental disomy study (UPD)
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA	• Sequence analysis of the entire coding region • Methylation analysis • Deletion/duplication analysis
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region • Deletion/duplication analysis
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany	• Sequence analysis of the entire coding region • Methylation analysis • Uniparental disomy study (UPD) • Deletion/duplication analysis
Monash Medical Centre, Genetics and Molecular Pathology - Melbourne, Australia	• Sequence analysis of the entire coding region • Methylation analysis • Uniparental disomy study (UPD)
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA	• FISH-metaphase • FISH-interphase
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase • FISH-interphase
Praxis fuer Humangenetik Wien - Vienna, Austria	• Sequence analysis of the entire coding region • Methylation analysis • Deletion/duplication analysis
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
Shodair Children's Hospital, Genetics Laboratory - Helena, MT, USA	• Methylation analysis • Uniparental disomy study (UPD) • Deletion/duplication analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of the entire coding region • Linkage analysis • Methylation analysis • Uniparental disomy study (UPD)
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• Methylation analysis • Uniparental disomy study (UPD) • Deletion/duplication analysis
University of Pennsylvania School of Medicine, Genetic Diagnostic Laboratory - Philadelphia, PA, USA	• Sequence analysis of the entire coding region • Methylation analysis • Uniparental disomy study (UPD) • Deletion/duplication analysis
Washington University School of Medicine, Molecular Diagnostic Laboratory - St. Louis, MO, USA	• Methylation 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.