Congenital Myasthenic Syndrome Panel
Congenital Myasthenic Syndrome Panel
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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

Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.