Disorders


 

APOB-Related Familial Hypercholesterolemia, Autosomal Dominant


 

OMIM

GeneLocusProtein
APOB2p24-p23Apolipoprotein 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• Sequence analysis of the entire coding region
 
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• Sequence analysis of the entire coding region
 
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• Sequence analysis of the entire coding region
• 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• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
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 Mnchen - München, Germany• Targeted mutation analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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.

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