Disorders


 

YARS-Related Intermediate Charcot-Marie-Tooth Neuropathy


Synonym(s): Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C, CMTDIC, DI-CMTC

 

OMIM

GeneLocusProtein
YARS1p35.1Tyrosyl-tRNA synthetase, cytoplasmic

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Sequence analysis of select exons
 
InVitae Corporation - San Francisco, CA, USA• Sequence analysis of the entire coding region
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, 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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