Disorders

Pantothenate Kinase-Associated Neurodegeneration

Synonym(s): NBIA1, Neurodegeneration with Brain Iron Accumulation Type 1, PKAN

Gene	Locus	Protein
PANK2	20p13	Pantothenate kinase 2

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Linkage analysis
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium
Liverpool Women's Hospital, Mersey Regional Molecular Genetics Laboratory - Liverpool, Great Britain	• Linkage analysis
Medgene, MedGene - Bratislava, Slovakia
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
Oregon Health and Science University, NBIA Testing Center - Portland, OR, USA
Praxis fuer Humangenetik Wien - Vienna, Austria
Ruhr University, Human Genetics - Bochum, Germany
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Linkage analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* 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.