Laboratory	Test Method	Prenatal	Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada	• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
bio.logis Center for Human Genetics - Frankfurt, Germany	• Sequence analysis of the entire coding region
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey	• Sequence analysis of select exons
Boston University, HFI Laboratory - Boston, MA, USA	• Targeted mutation analysis • Enzyme assay • Deletion/duplication analysis
Burc Molecular Genetics Laboratory - Istanbul, Turkey	• 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 • Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
CGB Laboratory Inc - Ostrava, Czech Republic	• Targeted mutation analysis
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague, Czech Republic	• Sequence analysis of the entire coding region
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 • Targeted mutation analysis
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of the entire coding region • Sequence analysis of select exons • Deletion/duplication analysis
Duke University Health System, Glycogen Storage Disease Laboratory - Durham, NC, USA	• Enzyme assay
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 • Targeted mutation analysis
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Targeted mutation analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Targeted mutation analysis
Intergen Genetics Centre - Ankara, Turkey	• Sequence analysis of the entire coding region
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Sequence analysis of the entire coding region • Sequence analysis of select exons • Analyte
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region
Praxis fuer Humangenetik Wien - Vienna, Austria	• Sequence analysis of the entire coding region
Pro Genetic, Inc, University Children's Genetics Laboratory - Glendale, CA, USA	• Targeted mutation analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of the entire coding region • Targeted mutation analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Sequence analysis of the entire coding region
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands	• Sequence analysis of the entire coding region

^* 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.