Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 215 genes associated with neuromuscular disorders: ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ADSS1, AGK, AGL, AGRN, ALDOA, ALG14, ALG2, ANO5, ASAH1, ASCC1, ATP1A2, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, BVES, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COQ4, COQ6, COQ8A, COQ9, CPT2, CRPPA, CRYAB, CTDP1, DAG1, DES, DGUOK, DMD, DNA2, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYSF, EMD, ENO3, ETFA, ETFB, ETFDH, FAM111B, FBXL4, FDX2, FHL1, FKBP14, FKRP, FKTN, FLAD1, FLNC, GAA, GBE1, GFER, GFPT1, GMPPB, GNE, GOSR2, GYG1, GYS1, HADHA, HADHB, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, INPP5K, ISCU, ITGA7, JAG2, KBTBD13, KCNJ2, KLHL40, KLHL41, KY, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAP3K20, MATR3, MB, MEGF10, MGME1, MICU1, MRPS25, MSTO1, MTM1, MTO1, MUSK, MYBPC1, MYH2, MYH7, MYMK, MYOT, MYPN, NEB, OPA1, ORAI1, PAX7, PDSS1, PDSS2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PLEC, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PRKAG2, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, SCN4A, SDHA, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC25A3, SLC25A4, SLC25A42, SLC5A7, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SUCLG1, SUN1, SUN2, SYNE1, SYT2, TANGO2, TAZ (TAFAZZIN), TBCD, TCAP, TFG, TIA1, TK2, TMEM43, TMEM65, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TSFM, TTC19, TTN, TWNK, UBA1, VAMP1, VCP, VMA21, YARS2. SMN1 exon 7 and SMN2 exon 7 copy number are determined by droplet digital polymerase chain reaction. See Targeted Genes and Methodology Details for Comprehensive Neuromuscular Gene Panel and Method Description for additional details.

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for neuromuscular disorders.