Congenital Myasthenic Syndrome Panel (18 Genes)
| TEST CODE | MGT0240 |
| TEST NAME | Congenital Myasthenic Syndrome Panel (18 Genes) |
| RELATED GENE | AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, DPM2, DPM3, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A |
| SYNONYMOUS | AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, DPM2, DPM3, GFPT1, LAMB2, MUSK, PLEC, RAPSN, SCN4A |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Congenital myasthenic syndromes are rare inherited diseases caused by defects at the junction where the nerve stimulates muscle activity. Within the scope of the panel, 18 genes associated with the disease are examined. |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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