The Diagnostic Panel for Neuromuscular Diseases investigates genetic diseases of the muscle and diseases of the nerve fibers activating the muscle, in which the muscle is only indirectly affected.
Genetic diagnostics is playing an increasingly important role in the diagnosis and treatment of neuromuscular diseases. This applies, for example, to early-onset spinal muscular atrophy, for which a causal therapy option has been developed. Genetic diagnosis is also essential for various forms of hereditary polyneuropathies. Furthermore, an early definitive diagnosis of severe, progressive, and sometimes lethal neuromuscular diseases is of great value for patient management.
The Diagnostic Panel for Neuromuscular Diseases is based on our proprietary, high-quality ExomeXtra® enrichment, covering all protein-coding regions as well as intronic and intergenic variants described as disease-relevant in the databases HGMD and ClinVar. In addition, the ExomeXtra® enrichment enables a genome-wide CNV calling with similar performance to array CGH. It thus provides the ideal basis for genetic diagnostics.
Are you insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!
What We Offer with the Panel for Neuromuscular Diseases
Our Promise to You
Your Benefits
It is possible to request single or multiple predefined gene sets. In addition to the complete analysis of the genes of the requested gene set, we extend the analysis by additional genes for differential diagnosis. We report variants of unknown significance (ACMG class 3) and pathogenic and probably pathogenic variants (ACMG classes 4 and 5) for the primarily ordered gene set. For the genes included due to differential diagnosis, we restrict the reporting to pathogenic and probably pathogenic variants (ACMG classes 4 and 5), which could be related to the indication of the person seeking advice.
The Diagnostic Panel for Neuromuscular Diseases is based on CeGaT’s ExomeXtra® enrichment. This allows, without additional sequencing, phenotypically eligible gene sets of other CeGaT panels or single genes to be additionally ordered. If you would like to assemble an individual panel, please feel free to contact us. We will be happy to support you.
In addition to the primary diagnostic assignment, the assessment of ACMG genes and pharmacogenetic profiling may also be ordered.
Method
The enrichment of the coding regions and the adjacent intronic regions is performed using an 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 our 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.
Sample Report
Information: The example report on epilepsy and brain development disorders illustrates how a report is structured.
General Information
Material
- 1-2 ml EDTA blood (recommended sample type) or
- 1-2 µg genomic DNA
- Order Form with declaration of consent
Here you can find more information on how to ship your sample safely.
Costs
The prices for our human genetic diagnostics depend on the size of the selected diagnostic panel and the selected gene sets. All prices include sequencing, bioinformatic analysis, and issuing of a medical report by our team of experts in human genetic diagnostics.
Gene Sets – Neuromuscular Diseases
Spinal Muscular Atrophies (NMD01, 28 Genes)
We perform a SMN1/SMN2 deletion/duplication analysis as first-tier analysis.
SMN2 results are provided in cases where a deletion of SMN1 is proven.
SMN1/SMN2 deletion/duplication analysis can be deselected if not required.
AR-Repeat Analysis optional.
ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, COQ7, DCTN1, DNAJB2, DYNC1H1, EMILIN1, FBXO38, GARS1, HSPB1, HSPB8, IGHMBP2, LAS1L, PLEKHG5, REEP1, SLC5A7, SPTAN1, SYT2, TRIP4, TRPV4, UBA1, VAPB, VRK1, WARS1
Hereditary Neuropathies (NMD02, 99 Genes)
We perform a PMP22 deletion/duplication as first-tier analysis.
PMP22 deletion analysis can be deselected if not required.
AARS1, ABHD12, AIFM1, ARHGEF10, ATL1, ATL3, ATP1A1, ATP7B, BSCL2, CADM3, COX6A1, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, ELP1, FBLN5, FGD4, FIG4, GAN, GARS1, GBF1, GDAP1, GJB1, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HINT1, HK1, HSPB1, HSPB8, IGHMBP2, INF2, ITPR3, JAG1, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS1, MCM3AP, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, NDRG1, NEFH, NEFL, NGF, NTRK1, NUDT2, PDK3, PDXK, PLAAT3, PLEKHG5, PMP2, PMP22, POLG, POLR3B, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SCN9A, SCN10A, SCN11A, SH3TC2, SLC5A6, SLC12A6, SORD, SPG11, SPTAN1, SPTLC1, SPTLC2, SURF1, TFG, TRIM2, TRPA1, TRPV4, TTR, VCP, VWA1, WARS1, WNK1, YARS1, ZFHX2
Congenital and Distal Myopathies (NMD03, 84 Genes)
ABCC9, ACTA1, ACTN2, ADSS1, ANO5, BAG3, BIN1, CACNA1S, CASQ1, CAV3, CCDC78, CFL2, CNTN1, COL6A1, COL6A2, COL6A3, COL12A1, COX6A2, CRYAB, DES, DMD, DNA2, DNAJB4, DNAJB6, DNM2, DYSF, FHL1, FLNC, FXR1, GNE, HACD1, KBTBD13, KLHL40, KLHL41, KY, LDB3, LMOD3, MAP3K20, MATR3, MB, MEGF10, MICU1, MLIP, MSTO1, MTM1, MTMR14, MYBPC1, MYH2, MYH7, MYL1, MYL2, MYO18B, MYOD1, MYOT, MYPN, NEB, ORAI1, PAX7, POLG, POLG2, PYROXD1, RYR1, RYR3, SCN4A, SELENON, SLC5A6, SMPX, SPEG, SQSTM1, STAC3, STIM1, SVIL, TCAP, TIA1, TK2, TNNC2, TNNT1, TOR1AIP1, TPM2, TPM3, TTN, UNC45B, VCP, VWA1
Limb-Girdle Muscular Dystrophies (NMD04, 43 Genes)
ADSS1, ANO5, BVES, CAPN3, CAV3, COL6A1, CRPPA, DAG1, DES, DMD, DNAJB6, DNM2, DPM3, DYSF, FKRP, FKTN, FLNC, GMPPB, HMGCR, HNRNPDL, JAG2, LAMA2, LIMS2, LMNA, MYOT, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PYROXD1, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, TTN
Further Muscular Dystrophies (NMD05, 33 Genes)
ANO5, CAV3, CAVIN1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DMD, DYSF, EMD, FHL1, FKRP, FKTN, GGPS1, GMPPB, GOSR2, HNRNPA2B1, INPP5K, ITGA7, LAMA2, LARGE1, LMNA, PABPN1, POMGNT1, POMT1, POMT2, PYROXD1, SYNE1, SYNE2, TMEM43, TOR1AIP1, TTN
Metabolic Myopathies (NMD08, 49 Genes)
ACAD9, ACADM, ACADS, ACADVL, AGL, ALDOA, AMPD1, CPT2, ENO3, ETFA, ETFB, ETFDH, FDX2, FLAD1, GAA, GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LAMP2, LDHA, LPIN1, MGME1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PNPLA2, POLG, POLG2, PUS1, PYGM, RBCK1, RRM2B, SLC16A1, SLC22A5, SLC25A4, SLC25A20, SLC25A42, SUCLA2, TAFAZZIN, VDR, VMA21, YARS2
Dystroglycanopathies / Walker-Warburg Syndrome (NMD10, 14 Genes)
B3GALNT2, B4GAT1, CRPPA, DAG1, FKRP, FKTN, GMPPB, LARGE1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1
Congenital Myasthenic Syndromes (NMD13, 24 Genes)
AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, MUSK, MYO9A, PREPL, RAPSN, SCN4A, SLC18A3, SLC5A7, SLC25A1, SNAP25, SYT2, VAMP1
Congenital Contractures and Arthrogryposis (NMD14, 52 Genes)
ACTA1, ADAMTS15, ADCY6, ADGRG6, ASCC1, BICD2, CHRND, CHRNG, CHST14, CNTNAP1, DNM2, DOK7, ECEL1, FBN2, FILIP1, FKBP10, GLDN, GLE1, KLHL40, KLHL41, LGI4, MAGEL2, MUSK, MYBPC1, MYH3, MYH8, MYL11, MYOD1, NALCN, NEB, NEK9, NUP88, PIEZO2, PIP5K1C, PLOD2, RAPSN, RYR1, SCYL2, SLC18A3, SLC35A3, SYNE1, TNNI2, TNNT3, TOR1A, TPM2, TRIP4, TRPV4, TTN, UBA1, VIPAS39, VPS33B, ZC4H2
Gene Directory – Panel for Neuromuscular Diseases
AARS1, ABCC9, ABHD12, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ACTN2, ADAMTS15, ADCY6, ADGRG6, ADSS1, AGL, AGRN, AIFM1, ALDOA, ALG14, ALG2, AMPD1, ANO5, ARHGEF10, ASAH1, ASCC1, ATL1, ATL3, ATP1A1, ATP1A2, ATP2A1, ATP7A, ATP7B, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, BVES, CACNA1S, CADM3, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, CNTNAP1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COQ7, COX6A1, COX6A2, CPT2, CRPPA, CRYAB, DAG1, DCTN1, DES, DMD, DNA2, DNAJB2, DNAJB4, DNAJB6, DNM2, DNMT1, DOK7, DPAGT1, DPM3, DST, DYNC1H1, DYSF, ECEL1, EGR2, ELP1, EMD, EMILIN1, ENO3, ETFA, ETFB, ETFDH, FBLN5, FBN2, FBXO38, FDX2, FGD4, FHL1, FIG4, FILIP1, FKBP10, FKRP, FKTN, FLAD1, FLNC, FXR1, GAA, GAN, GARS1, GBE1, GBF1, GDAP1, GFPT1, GGPS1, GJB1, GLA, GLDN, GLE1, GMPPB, GNB4, GNE, GOSR2, GSN, GYG1, GYS1, HACD1, HADHA, HADHB, HARS1, HINT1, HK1, HMGCR, HNRNPA2B1, HNRNPDL, HSPB1, HSPB8, IGHMBP2, INF2, INPP5K, ISCU, ITGA7, ITPR3, JAG1, JAG2, KBTBD13, KCNJ2, KCNJ5, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, KY, LAMA2, LAMP2, LARGE1, LAS1L, LDB3, LDHA, LGI4, LIMS2, LITAF, LMNA, LMOD3, LPIN1, LRSAM1, MAGEL2, MAP3K20, MARS1, MATR3, MB, MCM3AP, MEGF10, MFN2, MGME1, MICU1, MLIP, MME, MORC2, MPV17, MPZ, MSTO1, MTM1, MTMR14, MTMR2, MUSK, MYBPC1, MYH2, MYH3, MYH7, MYH8, MYL1, MYL11, MYL2, MYO18B, MYO9A, MYOD1, MYOT, MYPN, NALCN, NDRG1, NEB, NEFH, NEFL, NEK9, NGF, NTRK1, NUDT2, NUP88, ORAI1, PABPN1, PAX7, PDK3, PDXK, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PIEZO2, PIP5K1C, PLAAT3, PLEC, PLEKHG5, PLOD2, PMP2, PMP22, PNPLA2, POGLUT1, POLG, POLG2, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, PRDM12, PREPL, PRPS1, PRX, PUS1, PYGM, PYROXD1, RAB7A, RAPSN, RBCK1, REEP1, RETREG1, RRM2B, RXYLT1, RYR1, RYR3, SBF1, SBF2, SCN10A, SCN11A, SCN4A, SCN9A, SCYL2, SELENON, SGCA, SGCB, SGCD, SGCG, SH3TC2, SLC12A6, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC25A4, SLC25A42, SLC35A3, SLC5A6, SLC5A7, SMPX, SNAP25, SORD, SPEG, SPG11, SPTAN1, SPTLC1, SPTLC2, SQSTM1, STAC3, STIM1, SUCLA2, SURF1, SVIL, SYNE1, SYNE2, SYT2, TAFAZZIN, TCAP, TFG, TIA1, TK2, TMEM43, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRIP4, TRPA1, TRPV4, TTN, TTR, UBA1, UNC45B, VAMP1, VAPB, VCP, VDR, VIPAS39, VMA21, VPS33B, VRK1, VWA1, WARS1, WNK1, YARS1, YARS2, ZC4H2, ZFHX2
Additional Services
HLA-Typing (HLA01)
HLA alleles (HLA class I (Gene A, B, C) and HLA class II (Gene DPA1, DPB1, DQA1, DQB1, DRB1, DRB3, DRB4, DRB5))
ACMG Genes
Genetic variation may sometimes be identified, which does not fit within the scope of the requested genetic analysis (so-called secondary findings). The reporting of these variants is limited to pathogenic alterations (ACMG classes 4 and 5) within selected genes, for which a treatment or course of action exists for you or your family (according to the current guidelines of the American College of Medical Genetics and Genomics).
Details on ACMG genes and associated diseases can be found here
Pharmacogenetics (PGX)
Pharmacogenetic analysis detects genetic changes that affect the effectiveness of drugs. Genetic variants that affect proteins responsible for the metabolism of substances can significantly change their tolerance and efficacy. These drugs include, among others, antidepressants, pain relievers, neuroleptics, chemotherapeutics, AIDS drugs, thrombosis drugs, anesthetics, beta-blockers, or statins.
The reduced activity of a specific enzyme can lead to an increased drug level in the standard dosage, which is often associated with undesirable side effects. With drugs that are only activated by metabolism, the therapeutic effect can be completely absent. Likewise, due to the resulting increased rate of degradation of the medicinal substance, an increased enzyme activity leads to inadequate effectiveness of the therapy.
The pharmacogenetics option analyzes known variants in twenty-one genes involved in the metabolism of drugs. If specific gene variants occur, the treating doctor can adapt the therapy individually. The pharmacogenetic analysis can minimize serious side effects and helps to avoid failure of the treatment.
Details on PGX genes and further infomation can be found here
Downloads
* The example report on epilepsy and brain development disorders illustrates how a report is structured.
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Diagnostic Support
We will assist you in selecting the diagnostic strategy – for each patient.
