Disorders


 

Alpha1-Antitrypsin Deficiency


Synonym(s): A1AT Deficiency, AATD, Alpha 1 Antitrypsin Deficiency, Alpha-1-Antitrypsin Deficiency

 

GeneReviewOMIM

GeneLocusProtein
SERPINA114q32.1Alpha-1-antitrypsin

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark• Targeted mutation analysis
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Targeted mutation analysis
 
bio.logis Center for Human Genetics - Frankfurt, Germany• Targeted mutation analysis
 
Burc Molecular Genetics Laboratory - Istanbul, Turkey• Targeted mutation analysis
 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Targeted mutation analysis
 
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Targeted mutation analysis
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
CGC Genetics - Porto, Portugal• Targeted mutation analysis
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, 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
 
Faculty of Medicine, Pontificia Universidad Católica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service - Santiago, Chile• Targeted mutation analysis
 
Gene Analysis Service - Berlin, Germany• Sequence analysis of the entire coding region
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Mutation scanning of select exons
 
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey• Targeted mutation analysis
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Sequence analysis of select exons
• Targeted mutation analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Targeted mutation analysis
Intergen Genetics Centre - Ankara, Turkey• Targeted mutation analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
LabCorp, Molecular Biology - Research Triangle Park, NC, USA• Targeted mutation analysis
 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA• Targeted mutation analysis
 
McGill University Health Centre, Molecular Diagnostics - Montreal, Canada• Targeted mutation analysis
 
Medgene, MedGene - Bratislava, Slovakia• Targeted mutation analysis
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Targeted mutation analysis
National Health Laboratory Services, Inherited Metabolic Diseases - Cape Town, South Africa• Targeted mutation analysis
 
Nebraska Medical Center, Molecular Diagnostic Laboratory - Omaha, NE, USA• Targeted mutation analysis
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Targeted mutation analysis
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA• Targeted mutation analysis
 
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• 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
• Targeted mutation analysis
 
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland• Targeted mutation analysis
 
University Hospital Ostrava, DNA Diagnostics Laboratory - Ostrava, Czech Republic• Targeted mutation analysis
 
University of North Carolina Hospitals, Molecular Genetics - Chapel Hill, NC, USA• 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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