Our neuromuscular panel is ideal for patients with muscular diseases. It includes genes causing neurological diseases and covers disorders, such as metabolic myopathies, muscular dystrophies, Charcot- Marie-Tooth, congenital myasthenic syndromes, congenital myopathies, myofibrillar myopathies, nemaline myopathies, and other syndromes with hypotonia, myotonia, or weakness. Arthrogryposis is included for differential diagnosis of early-onset neuromuscular disorders. If there is high diagnostic suspicion for Duchenne muscular dystrophy, we recommend that the clinician orders deletion/duplication analysis by MLPA targeted to the DMD gene as an additional service.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:355 AARS1, ABHD5, ACAD9, ACADM, ACADVL, ACTA1, ACTG2, ADGRG6, AGL, AGRN, AHCY, AIFM1, ALDOA, ALG14, ALG2, AMPD1, ANO5, ARHGEF9, ASAH1, ASCC1, ATAD1, ATL1, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, BVES, CACNA1S, CAPN3, CASK, CASQ1, CAV1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTNAP1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COQ2, COX6A1, CPT2, CRLF1, CRPPA, CRYAB, CSRP3, CTDP1, DAG1, DCTN1, DES, DGUOK, DHCR24, DHTKD1, DMD, DMPK, DNA2, DNAJB2, DNAJB6, DNM2, DNMT1, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, ECEL1, EGR2, ELP1, EMD, ENO3, ERCC5, ERCC6, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, FBLN5, FBN2, FBXO38, FDX2, FGD4, FHL1, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNC, GAA, GAN, GARS1, GBA, GBE1, GDAP1, GFPT1, GJB1, GLDN, GLE1, GLRA1, GLRB, GMPPB, GNB4, GNE, GPHN, GYG1, GYS1, HADHA, HADHB, HINT1, HK1, HNRNPDL, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, HSPG2, IGHMBP2, INF2, ISCU, ITGA7, KARS1, KAT6B, KBTBD13, KCNA1, KCNE3, KCNJ2, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, KLHL7, KY, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LDHA, LGI4, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRP4, LRSAM1, MAGEL2, MAMLD1, MARS1, MATR3, MED25, MEGF10, MFN2, MICU1, MOCS1, MPV17, MPZ, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTM1, MTMR14, MTMR2, MUSK, MYBPC1, MYBPC3, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOT, MYPN, NALCN, NDRG1, NEB, NTRK1, OPA1, OPA3, PAX7, PDK3, PFKM, PGAM2, PGK1, PGM1, PHKA1, PIEZO2, PIP5K1C, PLEC, PLEKHG5, PLOD2, PMM2, PMP22, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PRKAG2, PRPS1, PRX, PYGM, PYROXD1, QARS1, RAB7A, RAPSN, RBCK1, REEP1, RETREG1, RRM2B, RXYLT1, RYR1, SBF1, SBF2, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCE, SGCG, SH3TC2, SIL1, SLC12A6, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC25A46, SLC52A2, SLC52A3, SLC5A7, SLC6A5, SMCHD1, SMN1, SMN2, SMPD4, SPEG, SPG11, SPTBN4, SPTLC1, SPTLC2, STAC3, STIM1, SUCLA2, SUN2, SYNE1, SYNE2, SYT2, TAFAZZIN, TANGO2, TBCK, TCAP, TFG, TGFB3, TIA1, TK2, TMEM43, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRIP4, TRPV4, TSEN2, TSFM, TTN, TWNK, TYMP, UBA1, VAMP1, VAPB, VCP, VIPAS39, VMA21, VPS33B, VRK1, WNK1, XK, YARS1, ZC4H2

SMN1/SMN2 Deletion/Duplication (MLPA) is a molecular test used to identify copy number variants in the gene associated with Spinal Muscular Atrophy. Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

5-7 business days

EDTA Blood