Disorders


 

C10orf2-Related Ataxia Neuropathy Spectrum Disorders


Synonym(s): C10orf2-Related SANDO

 

OMIM

GeneLocusProtein
C10orf210q24Twinkle protein, mitochondrial

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Transgenomic - New Haven, CT, USA• 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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