Information
Large panel approach: The panel for genetic neuromuscular diseases covers 332 genes. All of these genes are sequenced simultaneously. We interpret all genes associated with the patient’s phenotype, referred to as a gene set. In addition, mtDNA is part of the enrichment.
Maximize diagnostic options: Each gene set can be requested individually or in combination with other gene sets. It’s also possible to select a custom combination of genes (Custom Panel). Click here to view our gene sets.
Extensive medical reporting: The interpretation includes single nucleotide variants (SNVs), small insertions and deletions (INDELs), and copy number variants (CNVs) of single and/or multiple exons. For every gene depicted in the gene sets, we analyse all coding regions as well as all known disease coding intronic variants. For mtDNA, phenotype associated hotspots are part of the analysis. Full analysis of mtDNA available upon request.
This diagnostic panel covers over 99,6% of the target region at a minimum of 30x, while the average coverage is over 800x.
Method
The enrichment of the coding regions and the adjacent intronic regions is performed using a in-solution hybridization technology. The selection of the targeted regions and the design of the enrichment baits is performed in-house.
High throughput sequencing is performed on Illumina platforms.
Bioinformatic processing of the data is achieved using an in-house computer cluster.
Following data processing, our team of scientists and specialists in human genetics analyze the data and issue a medical report.
Material and turnaround time
- 3-5 ml EDTA-Blood or 5 µg genomic DNA
- Order form with declaration of consent according to German Gendiagnostikgesetz (GenDG)
Turnaround time: 4-6 weeks
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Gene sets – Neuromuscular Diseases
Spinal muscular atrophy (31 genes, NMD01)
SMN1 deletion analysis can be deselected if not required.
AR-repeat analysis optional.
AARS, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC3, EXOSC8, FBXO38, GARS, HEXA, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, PLEKHG5, RBM7, REEP1, SCO2, SETX, SIGMAR1, SLC5A7, TRPV4, UBA1, VAPB, VRK1
Hereditary neuropathies (101 genes, NMD02)
PMP22 deletion analysis can be deselected if not required
AARS, ABHD12, AIFM1, ARHGEF10, ATL1, ATL3, BSCL2, C10ORF2, C12ORF65, CCT5, COX6A1, CTDP1, DCAF8, DCTN2, DGAT2, DHTKD1, DNAJB2, DNAJB5, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GJB3, GNB4, HADHA, HADHB, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MYH14, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, PDK3, PLEKHG5, PMP2, PMP22, POLG, PRDM12, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPT9, SH3TC2, SLC12A6, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, TECPR2, TFG, TRIM2, TRPV4, TRPA1, TTR, TYMP, VCP, WNK1, YARS
Congenital and distal myopathies (82 genes, NMD03)
ACTA1, ACVR1, ADSSL1, ANO5, BAG3, BIN1, C10ORF2, CACNA1S, CASQ1, CAV3, CCDC78, CFL2, CHCHD10, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CRYAB, DES, DNA2, DNAJB5, DNM2, DYSF, FHL1, FHL2, FKBP14, FLNC, GNE, HACD1 (PTPLA), HNRNPA1, HNRNPA2B1, ISCU, KBTBD13, KLHL40, KLHL41, KLHL9, KY, LAMP2, LDB3, LMOD3, MATR3, MEGF10, MICU1, MSTN, MTM1, MTMR14, MYF6, MYH14, MYH2, MYH7, MYOT, NEB, OPA1, ORAI1, PABPN1, PLEC, POLG, POLG2, PUS1, PYROXD1, RRM2B, RYR1, SEPN1, SIL1, SPEG, STAC3, STIM1, SUCLA2, TIA1, TK2, TNNT1, TPM2, TPM3, TRIM32, TRIM54, TRIM63, TTN, VCP, VMA21, YARS2, ZAK
Limb-girdle muscular dystrophies (39 genes, NMD04)
ANO5, BVES, CAPN3, CAV3, DAG1, DES, DMD, DNAJB6, DPM3, DYSF, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, HNRNPDL, ISPD, LAMA2, LIMS2, LMNA, MYOT, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN
Muscular dystrophies (42 genes, NMD05)
DMD deletion analysis can be deselected if not required
ANO5, B3GALNT2, B4GAT1 (B3GNT1), CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DMD, DPM1, DPM2, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, GMPPB, GOLGA2, ISPD, ITGA7, LAMA2, LARGE, LMNA, PABPN1, POMGNT1, POMGNT2, POMT1, POMT2, PTRF, SEPN1, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TMEM5, TOR1AIP1, TRAPPC11, TRIP4, TTN
Congenital myasthenic syndromes and arthrogryposis (58 genes, NMD06)
ACTA1, ADCY6, AGRN, ALG14, ALG2, ALG3, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNTNAP1, COL13A1, COLQ, DNM2, DOK7, DPAGT1, ECEL1, ERBB3, FBN2, FBN3, FKBP10, GFPT1, GLDN, GLE1, GMPPB, GPR126, LAMB2, LRP4, MUSK, MYBPC1, MYH3, MYH8, MYO9A, NALCN, NEK9, PIEZO2, PIP5K1C, PLEC, PLOD2, PREPL, RAPSN, SCN4A, SEMA3A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYNE1, SYT2, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZC4H2
Myotonia (5 genes, NMD07)
ATP2A1, CAV3, CLCN1, HINT1, SCN4A
Metabolic myopathies (44 genes, NMD08)
ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, AGL, AMPD1, CPT2, ENO3, ETFA, ETFB, ETFDH, G6PC, GAA, GBE1, GYG1, GYS1, HADH, HADHA, HADHB, ISCU, LDHA, LPIN1, PDHA1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PNPLA2, POLG2, PRKAG2, PUS1, PYGM, RBCK1, RRM2B, SLC16A1, SLC22A5, SLC25A20, TAZ, YARS2
Walker-Warburg syndrome (15 genes, NMD10)
B3GALNT2, B4GAT1 (B3GNT1), COL4A1, DAG1, FKRP, FKTN, GMPPB, ISPD, LARGE, POMGNT1, POMGNT2, POMK, POMT1, POMT2, TMEM5
Periodic paralyses (5 genes, NMD12)
CACNA1S, SCN4A, KCNJ2, KCNJ5, KCNE3
Complete panel - neuromuscular diseases (332 genes)
AARS, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACTA1, ACVR1, ADCY6, ADSSL1, AGL, AGRN, AIFM1, ALG14, ALG2, ALG3, AMPD1, ANO5, ARHGEF10, ASAH1, ASCC1, ATL1, ATL3, ATP2A1, ATP7A, B3GALNT2, B3GNT1, BAG3, BICD2, BIN1, BSCL2, BVES, C10ORF2, C12ORF65, CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CCT5, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, CNTNAP1, COL12A1, COL13A1, COL4A1, COL6A1, COL6A2, COL6A3, COLQ, COX6A1, CPT2, CRYAB, CTDP1, DAG1, DCAF8, DCTN1, DCTN2, DES, DGAT2, DHTKD1, DMD, DNA2, DNAJB2, DNAJB5, DNAJB6, DNM2, DNMT1, DOK7, DPAGT1, DPM1, DPM2, DPM3, DRP2, DST, DYNC1H1, DYSF, ECEL1, EGR2, EMD, ENO3, ERBB3, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, FAM134B, FBLN5, FBN2, FBN3, FBXO38, FGD4, FHL1, FHL2, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLNC, G6PC, GAA, GAN, GARS, GBE1, GDAP1, GFPT1, GJB1, GJB3, GLDN, GLE1, GMPPB, GNB4, GNE, GOLGA2, GPR126, GYG1, GYS1, HADH, HADHA, HADHB, HARS, HEXA, HINT1, HK1, HNRNPA1, HNRNPA2B1, HNRNPDL, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, ISCU, ISPD, ITGA7, KARS, KBTBD13, KCNE3, KCNJ2, KCNJ5, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, KLHL9, KY, LAMA2, LAMB2, LAMP2, LARGE, LAS1L, LDB3, LDHA, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRP4, LRSAM1, MARS, MATR3, MED25, MEGF10, MFN2, MICU1, MME, MORC2, MPV17, MPZ, MSTN, MTM1, MTMR14, MTMR2, MUSK, MYBPC1, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYO9A, MYOT, NAGLU, NALCN, NDRG1, NEB, NEFH, NEFL, NEK9, NGF, NTRK1, OPA1, ORAI1, PABPN1, PDHA1, PDK3, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PIEZO2, PIP5K1C, PLEC, PLEKHG5, PLOD2, PMP2, PMP22, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRDM12, PREPL, PRKAG2, PRPS1, PRX, PTPLA, PTRF, PUS1, PYGM, PYROXD1, RAB7A, RAPSN, RBCK1, RBM7, REEP1, RRM2B, RYR1, SBF1, SBF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO2, SEMA3A, SEPN1, SEPT9, SETX, SGCA, SGCB, SGCD, SGCG, SH3TC2, SIGMAR1, SIL1, SLC12A6, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC5A7, SMCHD1, SNAP25, SOX10, SPEG, SPG11, SPTLC1, SPTLC2, STAC3, STIM1, SUCLA2, SURF1, SYNE1, SYNE2, SYT2, TAZ, TCAP, TECPR2, TFG, TIA1, TK2, TMEM43, TMEM5, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRIM54, TRIM63, TRIP4, TRPA1, TRPV4, TTN, TTR, TYMP, UBA1, VAPB, VCP, VIPAS39, VMA21, VPS33B, VRK1, WNK1, YARS, YARS2, ZAK, ZC4H2