Disorders


 

KARS-Related Intermediate Charcot-Marie-Tooth Neuropathy


Synonym(s): CMTRIB, Recessive Intermediate Charcot-Marie-Tooth Disease B, RI-CMTB

 

OMIM

GeneLocusProtein
KARS16q23.1Lysyl-tRNA synthetase

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
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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