Genetic Test Details
Congenital Muscle Diseases Panel
Test Information
- Title
-
Congenital Muscle Diseases Panel
- Lab
- Lab
- Category
- Neurogenetics
- Sub Category
-
Neuromuscular Disease
- Gene/Platform/Region List
-
ACTA1, ACTN2, ACVR1, ADSS1, AGRN, ALG14, ALG2, ASCC3, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CACNA1H, CACNA1S, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHD8, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLN3, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB4, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, ECEL1, EPG5, FHL1, FKBP14, FKRP, FKTN, FLNC, FXR1, GAA, GATM, GFPT1, GIPC1, GMPPB, GOLGA2, GOSR2, HACD1, HNRNPA1, HNRNPA2B1, HRAS, IGHMBP2, INPP5K, ISCU, ITGA7, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LDB3, LMNA, LMOD3, LRP12, LRP4, MAP3K20, MB, MCOLN1, MEGF10, MICU1, MPDU1, MSTN, MSTO1, MTM1, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NEB, PABPN1, PAX7, PIEZO2, PLEC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PURA, PYROXD1, RAPSN, RILPL1, RPH3A, RXYLT1, RYR1, RYR3, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC18A3, SLC25A1, SLC25A4, SLC5A7, SNAP25, SPEG, SPTBN4, STAC3, STIM1, SVIL, SYNE1, SYT2, TCAP, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIM54, TRIM63, TRIP4, TTN, UNC13A, UNC45B, VAMP1, VCP, VMA21
- Test type
- Gene Panel
- Samples Accepted
- Blood , DNA
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- Sequencing
- Disease/Condition
-
Congenital Muscle Diseases, Congenital myasthenic syndrome (CMS), congenital myopathy (CM), and congenital muscular dystrophy (CMD), congenital myotonic dystrophy.
Last Updated: September 05, 2025