Congenital Myasthenic Syndrome Panel
Congenital Myasthenic Syndrome Panel
Prix habituel
€29.00 EUR
Prix habituel
Prix soldé
€29.00 EUR
Prix unitaire
par
Impossible de charger la disponibilité du service de retrait
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.
List of main conditions:
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
Afficher tous les détails
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.