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Congenital Myasthenic Syndrome Panel

Congenital Myasthenic Syndrome Panel

Regular price €49.00 EUR
Regular price Sale price €49.00 EUR
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This product is only meant for customers who already purchased a MyGenome Test

Congenital myasthenia is an inherited disorder that usually develops at or near birth or in early childhood and involves muscle weakness and fatigue. It happens when chemicals called neurotransmitters that help transmit information between nerve cells and muscles aren't released and received properly.

The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • More than 25 genes analyzed
  • Investigates SNP and Indel mutations up to 150 bp

List of main conditions:
  • Congenital Myasthenic Syndrome

List of genes analyzed:
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
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This product is only meant for customers who already purchased a MyGenome Test