Cardiology

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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

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