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Congenital Myasthenic Syndrome Report

$49.00

Congenital Myasthenic Syndrome Report

$49.00
description

 

The Congenital Myasthenic Syndrome Report is based on Whole Genome Sequencing Test. As such, it analyzes all Common and Rare Variants associated with Congenital Myasthenic Syndrome instead of a limited set of genes, like old genetic target panels.

Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion.

Along with environmental factors, Genetics plays a key role in the regulation of Congenital Myasthenic Syndrome.


  • 29 genes analyzed
  • 100% genomic regions covered
  • Intragenic and intergenic regions analyzed
  • All variants reported

 

List of genes:

AGRN,ALG14,ALG2,CHAT,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,COL13A1,COLQ,DOK7,DPAGT1,FLAD1,GFPT1,GMPPB,LAMB2,LRP4,MUSK,MYO9A,PLEC,PREPL,RAPSN,SCN4A,SLC25A1,SLC5A7,SNAP25,STIM1,SYT2