Disorders

Alpha1-Antitrypsin Deficiency

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

Gene	Locus	Protein
SERPINA1	14q32.1	Alpha-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
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
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Targeted mutation analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Targeted mutation analysis
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• 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
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
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	• Targeted mutation analysis
Intergen Genetics Centre - Ankara, Turkey	• Targeted mutation analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
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 München - 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
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	• Targeted mutation analysis
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• 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.