Disorders


 

Pol III-Related Leukodystrophies


Synonym(s): Pol III Related Leukodystrophies

 

GeneReviewOMIM

GeneLocusProtein
POLR3B12q24DNA-directed RNA polymerase III subunit RPC1

Laboratory Test Method Prenatal Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region

* 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.

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