Disorders

Spastic Paraplegia 39

Synonym(s): SPG39

Gene	Locus	Protein
PNPLA6	19p13.2	Neuropathy target esterase

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
GGA - Galil Genetic Analysis - Kazerin, Israel
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* 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.