Disorders

Pol III-Related Leukodystrophies

Synonym(s): Pol III Related Leukodystrophies

Gene	Locus	Protein
POLR3B	12q24	DNA-directed RNA polymerase III subunit RPC1

Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany

^* 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.