Laboratory	Test Method	Prenatal	Carrier *
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark	• Sequence analysis of the entire coding region
Athena Diagnostics Inc, Reference Lab - Worcester, MA, 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 • Deletion/duplication analysis
CeGaT GmbH - Tuebingen, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
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 Freiburg, Kohlhase Laboratory - Freiburg, 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 • Linkage analysis
Centogene AG, Rare Disease Company - 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
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of the entire coding region
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia	• Sequence analysis of the entire coding region
GGA - Galil Genetic Analysis - Kazerin, Israel	• Sequence analysis of the entire coding region
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
InVitae Corporation - San Francisco, CA, USA	• Sequence analysis of the entire coding region
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
Medgene, MedGene - Bratislava, Slovakia	• Deletion/duplication analysis
Medical Neurogenetics - Atlanta, GA, USA	• Sequence analysis of the entire coding region
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
Praxis fuer Humangenetik Wien - Vienna, Austria	• Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of the entire coding region
Secugen SL - Madrid, Spain	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of the entire coding region
Transgenomic - New Haven, CT, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Transgenomic, Transgenomic - Omaha - Omaha, NE, USA	• 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 Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands	• Sequence analysis of the entire coding region • Deletion/duplication analysis
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA	• Sequence analysis of the entire coding region • 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.