Congenital Myopathy Panel (19 Genes)
| TEST CODE | MGT0010 |
| TEST NAME | Congenital Myopathy Panel (19 Genes) |
| RELATED GENE | ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SELENON, TNNT1, TPM2, TPM3 |
| SYNONYMOUS | ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SELENON, TNNT1, TPM2, TPM3 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | Congenital myopathies are rare muscle diseases that mostly occur at birth and are caused by genetic defects. Within the scope of the panel, 19 genes associated with congenital myopathy are examined. |
| METHOD | Next Generation Sequencing (NGS) |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 mL |
| TAT | 40 DAYS |
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