Disorders

PLA2G6-Associated Neurodegeneration

Synonym(s): PLA2G6-Related Disorders, PLAN

Gene	Locus	Protein
PLA2G6	22q13.1	85/88 kDa calcium-independent phospholipase A2

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
GGA - Galil Genetic Analysis - Kazerin, Israel
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Liverpool Women's Hospital, Mersey Regional Molecular Genetics Laboratory - Liverpool, Great Britain
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
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
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.