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Congenital and Other Myopathies Panel

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Test Information

Title
Congenital and Other Myopathies Panel
Category
Neurogenetics
Test Name (CMS Title)
Neuromuscular Disease
Gene/Platform/Region List
ACTA1, ACTN2, ACVR1, ADSS1, ASCC3, ATP2A1, BAG3, BICD2, BIN1, CACNA1H, CACNA1S, CASQ1, CAV3, CCDC78, CFL2, CHKB, CLN3, CNTN1, COL12A1, CRYAB, DES, DNAJB4, DNM2, DOK7, ECEL1, EPG5, FHL1, FKBP14, FLNC, FXR1, GATM, GIPC1, HACD1, HNRNPA1, HNRNPA2B1, HRAS, IGHMBP2, ISCU, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMP2, LDB3, LMNA, LMOD3, LRP12, MAP3K20, MB, MCOLN1, MEGF10, MICU1, MSTN, MTM1, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYOT, MYPN, NEB, PABPN1, PAX7, PIEZO2, PLEC, PYROXD1, RILPL1, RYR1, RYR3, SCN4A, SELENON, SLC25A4, SPEG, SPTBN4, STAC3, STIM1, SVIL, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TPM2, TPM3, TRIM32, TRIM54, TRIM63, TRIP4, TTN, UNC45B, VCP, VMA21
Test type
Samples Accepted
Blood, DNA
Indications
Carrier Cascade Testing, Diagnosis
Test Methodology
Sequencing
Disease/Condition
Congenital and Other Myopathies

Last Updated: November 14, 2025