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Product | Type of test | Genes |
---|---|---|
Myofibrillar myopathy | Targeted Exome | ACTC1, ACTN2, DMD, DNAJC19, DTNA, FHL1, HCN4, LDB3, LMNA, MIB1, MYBPC3, MYH6, MYH7, MYL2, NKX2-5, NNT, PLN, PRDM16, RYR2, TAZ, TNNT2, TPM1 |
Myotonia congenita | NGS Panel | ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3 |
Nemaline myopathy | Targeted Exome | ACTA1, NEB, COL6A3, TPM3, TPM2, TNNT1,CFL2, KBTBD13 |
Nemaline myopathy (congenital) | NGS Panel | ACTA1, NEB, TPM3, TPM2, TNNT1, CFL2, KBTBD13 |
Nemaline myopathy type 1 | Gene NGS | TPM3 |
Nemaline myopathy type 2 | Gene NGS | NEB |
Nemaline myopathy type 5 | Gene NGS | TNNT1 |
Nemaline myopathy type 6 | Gene NGS | KBTBD13 |
Nemaline myopathy type 7 | Gene NGS | CFL2 |
oculodentodigital dysplasia | Gene NGS | SCNN1B |
Parkes Weber syndrome | Gene NGS | RASA1 |
Pulmonary arterial hypertension | Gene NGS | BMPR2 |
Severe congenital nemaline myopathy | Gene NGS | ACTA1, NEB |
Short QT syndrome | Targeted Exome | CACNA1C, CACNA1D, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1 |
Weill-Marchesani syndrome | Gene NGS | ADAMTS10 |