Disorders

APOB-Related Familial Hypercholesterolemia, Autosomal Dominant

Gene	Locus	Protein
APOB	2p24-p23	Apolipoprotein B-100

Laboratory	Test Method	Prenatal	Carrier *
Aarhus University Hospital, Aarhus Sygehus - Tage-Hansens Gade, Molecular Genetics Laboratory - Department of Clinical Biochemistry - Aarhus, Denmark	• Targeted mutation analysis
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands	• Targeted mutation analysis
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA	• Sequence analysis of select exons
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA	• Sequence analysis of select exons
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Targeted mutation analysis
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Targeted mutation analysis
bio.logis Center for Human Genetics - Frankfurt, Germany	• Targeted mutation analysis
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Targeted mutation analysis
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany
Centre for Cardiovascular Surgery and Transplantation, Molecular Genetics Laboratory - Brno, Czech Republic	• Targeted mutation analysis
CGB Laboratory Inc - Ostrava, Czech Republic	• Targeted mutation analysis
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
Charles University, 1st Faculty of Medicine, Institute of Clinical Biochemistry and Laboratory Diagnostics - Praha, Czech Republic	• Targeted mutation analysis
Correlagen Diagnostics, Inc. - Westborough, MA, USA	• Sequence analysis of select exons
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Targeted mutation analysis
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Targeted mutation analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey	• Targeted mutation analysis
Genomac International, s.r.o., Laboratory for Molecular Genetics - Prague, Czech Republic	• 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
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Targeted mutation analysis
Mayo Clinic - Minnesota, Cardiovascular Laboratory Medicine Genetics - Rochester, MN, USA	• Targeted mutation analysis
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany	• Targeted mutation analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Progenika Inc - Medford, MA, USA	• Sequence analysis of select exons
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Targeted mutation analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Sequence analysis of select exons • Targeted mutation analysis
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain	• Targeted mutation analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• Targeted mutation analysis
University Hospital Ostrava, DNA Diagnostics Laboratory - Ostrava, Czech Republic	• Targeted mutation 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.