Multigen-Diagnostik

Panel-Nummer: ID336.00

Gene (246)

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 ID336.00

Muskelerkrankungen, umfassende Diagnostik: 246 Gene (749,8 kb)

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

Kongenitale, distale und metabolische Myopathien: 110 Gene (382,6 kb)

ABHD5, ACAD9, ACADM*, ACADS*, ACADVL*, ACTA1, ACTN2, ADSS1, AGK, AGL, ALDOA, AMPD1, ANO5, BAG3*, BIN1, CAV3*, CCDC78, CFL2, CNTN1*, COL6A1*, COL6A2, COL6A3, CPT2, CRYAB, DES*, DNAJB6, DNM2*, DYSF, ECEL1, ENO3, ETFA, ETFB, ETFDH, FLAD1, FLNC, FXR1, GAA*^,**, GBE1, GNE, GYG1, GYS1, HADH, HADHA*, HADHB, ISCU, ITGA7, KBTBD13, KLHL40, KLHL41, KY, LDB3, LAMP2, LDHA, LIG3, LMOD3, LPIN1, MAP3K20, MATR3, MEGF10, MGME1, MTM1, MTMR14, MYBPC1, MYH2, MYH3, MYH7*^,**, MYH8, MYMK, MYOT, MYPN*, NEB, TNNI2, OPA1*^,**, PAX7, PFKM, PGK1, PGM1, PHKA1, PHKB, PIEZO2*, PNPLA2, POLG*^,**, POLG2, PRKAG2*, PUS1, PYGM, PYROXD1, RBCK1, RRM2B, RYR1*, SELENON*, SLC22A5, SLC25A20, SLC25A4, SPEG, STAC3, SUCLA2, SUCLG1, TAFAZZIN*, TCAP, TIA1, TK2, TNNT1, TNNT3, TPM2, TPM3, TTN, TYMP, UBA1, YARS2

Gliedergürtelmuskeldystrophie (LGMD) und weitere Muskeldystrophien: 47 Gene (270,0 kb)

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

Kongenitales myasthenes Syndrom (CMS): 25 Gene (55,9 kb)

AGRN, ALG2, ALG14, CHAT, CHRNA1*, CHRNB1*, CHRND*, CHRNE, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, LRP4, MUSK, MYO9A, PREPL, RAPSN*, SCN4A*, SLC5A7, SLC18A3, SLC25A1, SNAP25, SYT2, VAMP1

^{* 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