Congenital Myasthenic Syndrome NGS panel

Genes
(full coding
region):		 AGRN, ALG2, ALG14, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMB2, LRP4, MUSK, PLEC, PREPL, RAPSN, SCN4A, SLC5A7, SNAP25, SYT2

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form