Multigen-Diagnostik

Panel-Nummer: ID336.01

Gene (274)

Methodik

Mittels Next-Generation-Sequencing (NGS) werden die o. g. Gene parallel analysiert (DNA-Sequenz, ggf. Kopienzahlvariation (CNV)).

Als Bestätigungsanalyse kann ggf. eine Sanger-Sequenzanalyse bzw. eine MLPA-Analyse (Multiplex-Ligation-dependent-Product-Amplification) durchgeführt werden.

Diagnostik

Gen-Panel ID336.01

Myopathien, umfassende Diagnostik: 274 Gene (811,8 kb)

ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ACTN2, ADSS1, AGK, AGL, AGRN, ALDOA, ALG14, ALG2, AMPD1, ANO5, ASAH1, ASCC1, ATP2A1, ATP2A2, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CNBP, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, COQ4, COQ8A, CPT2, CRPPA, CRYAB, CTBP1, DAG1, DES, DGUOK, DMD, DMPK, DNA2, DNAJB4, DNAJB6, DNM2, DNMT3B, DTNA, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, ECEL1, EGR2, EMD, ENO3, EPG5, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, FBXL4, FDX2, FHL1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FXR1, GAA, GARS1, GBE1, GDAP1, GFPT1, GMPPB, GNE, GUK1, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HINT1, HNRNPA1, HNRNPA2B1, HNRNPDL, HSPB8, IGHMBP2, INPP5K, ISCU, ITGA7, JAG2, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMA5, LAMP2, LARGE1, LAS1L, LDB3, LDHA, LIG3, LIMS2, LMNA, LMOD3, LPIN1, LRIF1, LRP4, MAP3K20, MATR3, MEGF10, MFN2, MGME1, MICU1, MLIP, MPV17, MPZ, MRM2, MTM1, MTMR14, MTRFR, MUSK, MYBPC1, MYH1, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL2, MYMK, MYO18B, MYO9A, MYOD1, MYOT, MYPN, NEB, NEFL, OBSCN, OPA1, ORAI1, PAX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PIEZO2, PLEC, PNPLA2, POC5, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC1, POPDC3, PREPL, PRKAG2, PUS1, PYGM, PYROXD1, RAPSN, RBCK1, RNASEH1, RNU4-2, RRM2B, RXYLT1, RYR1, RYR3, SCN4A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SLC18A3, SLC22A5, SLC25A1, SLC25A10, SLC25A20, SLC25A21, SLC25A26, SLC25A3, SLC25A32, SLC25A4, SLC52A3, SLC5A7, SMCHD1, SMN1, SMPX, SNAP25, SPEG, SPG7, SPG11, SQSTM1, STAC3, STIM1, SUCLA2, SUCLG1, SVIL, SYNE1, SYNE2, SYT2, TAFAZZIN, TAMM41, TANGO2, TCAP, TFAM, TIA1, TK2, TMEM43, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRAPPC2L, TRIM32, TRIP4, TRMT5, TRPV4, TSFM, TTN, TUBB3, TWNK, TYMP, UBA1, UNC45B, VAMP1, VCP, VMA21, VRK1, YARS2

Kongenitale Myopathie (CMYP): 49 Gene (268,1 kb)

ACTA1, ACTN2, BAG3, BIN1, CACNA1S, CCDC78, CFL2, CNTN1, CRYAB, DES, DNAJB4, DNM2, FLNC, FXR1, HACD1, KBTBD13, KLHL40, KLHL41, KY, LDB3, LMOD3, MAP3K20, MEGF10, MTM1, MTMR14, MYBPC1, MYH2, MYH7, MYL1, MYL2, MYOD1, MYOT, MYPN, NEB, PAX7, PYROXD1, RYR1, RYR3, SCN4A, SELENON, SPEG, STAC3, SVIL, TNNC2, TNNT1, TPM2, TPM3, TTN, UNC45B

Distale Myopathie (MPD): 30 Gene (186,0 kb)

ACTA1, ACTN2, ADSS1, ANO5, BAG3, CAV3, CRYAB, DES, DNAJB6, DNM2, DYSF, FHL1, FLNC, GNE, HNRNPA1, HNRPA2B1, HSPB8, KY, LDB3, MATR3, MYH7, MYOT, NEB, PYROXD1, SMPX, SQSTM1, TCAP, TIA1, TTN, VCP

Muskeldystrophie (LGMD, EMD): 52 Gene (283,6 kb) 

ANO5, B3GALNT2, B4GAT1, CAPN3, CNBP, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DES, DAG1, DMD, DMPK, DNAJB6, DPM3, DYSF, EMD, FHL1, FKRP, FKTN, GMPPB, HNRNPDL, JAG2, LAMA2, LARGE1, LIMS2, LMNA, PLEC, POGLUT1, POPDC1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POPDC3, RXYLT1, SGCA, SGCB, SGCD, SGCG, SMCHD1, SYNE1, SYNE2, TCAP, TMEM43, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN 

^{* auch als Einzelgen-Diagnostik mittels Sanger-Sequenzierung verfügbar
** auch als Einzelgen-Diagnostik mittels MLPA-Analyse verfügbar}

Material

3 - 5 ml EDTA-Blut

Dauer

4 - 6 Wochen