NGS Fetale Akinesie

Fetale Akinesie/Arthrogryposis Multiplex Congenita (AMC)

Zugehörige Erkrankungen:
Fetale Akinesie Deformations Sequence (FADS) (OMIM 208150)
Letales Multiple Pterygium Syndrom (OMIM 253290)
Letale Arthrogryposis mit Vorderhorn-Zellanämie (OMIM 611890)
Letales kongenitales Kontraktur Syndrom 1 (OMIM 253310)

Gen-Panel (412 Gene; >25kb)
AARS, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACTA1, ACVR1, ADAMTS10, ADCY6, ADGRG6, ADSL, AGL, AGRN, AIFM1, AIMP1, ALDOA, ALG14, ALG2, ALG3, AMPD1, ANO5, ANTXR2, ARHGEF10, ASAH1, ASCC1, ASXL1, ATL1, ATL3, ATP1A2, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, BVES, C12orf65, CACNA1S, CAPN3, CASK, CASQ1, CAV3, CCDC78, CCT5, CFL2, CHAT, CHCHD10, CHKB, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, CLCF1, CLCN1, CNTN1, CNTNAP1, COASY, COL12A1, COL13A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, COX6A1, CPT2, CRLF1, CRYAB, CTDP1, CUL4B, DAG1, DCAF8, DCTN1, DES, DHCR24, DHCR7, DHTKD1, DMD, DMPK, DNA2, DNAJB2, DNAJB6, DNM2, DNMT1, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DRP2, DST, DYNC1H1, DYSF, ECEL1, EGR2, EMD, ENO3, ERBB3, ERCC1, ERCC5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, FAM111B, FAM20C, FBLN5, FBN2, FBXO38, FGD4, FGFR2, FGFR3, FHL1, FHL2, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLNB, FLNC, FLVCR2, G6PC, GAA, GAN, GARS, GBA, GBE1, GDAP1, GFER, GFM2, GFPT1, GJB1, GJB3, GLA, GLDN, GLE1, GMPPB, GNB4, GNE, GRN, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HARS, HEXA, HINT1, HK1, HNRNPA1, HNRNPA2B1, HNRNPDL, HOXD10, HRAS, HSPB1, HSPB3, HSPB8, HSPG2, IBA57, IGHMBP2, INF2, INPP5K, IRF6, ISCU, ISPD, ITGA7, KARS, KAT6B, KBTBD13, KCNE3, KCNJ2, KCNJ5, KIF1A, KIF1B, KIF5A, KIF5C, KLHL40, KLHL41, KLHL7, KLHL9, L1CAM, LAMA2, LAMA5, LAMB2, LAMP2, LARGE1, LAS1L, LDB3, LDHA, LIMS2, LITAF, LMNA, LMOD3, LMX1B, LPIN1, LRP4, LRSAM1, MAGEL2, MARS, MATR3, MED25, MEGF10, MFN2, MICU1, MME, MORC2, MPV17, MPZ, MSTN, MTM1, MTMR1, MTMR14, MTMR2, MUSK, MYBPC1, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYOT, MYPN, NAGLU, NALCN, NDRG1, NEB, NEFH, NEFL, NEK9, NGF, NTRK1, OPA1, ORAI1, PABPN1, PDHA1, PDK3, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PI4KA, PIEZO2, PIP5K1C, PLEC, PLEKHG5, PLOD1, PLOD2, PMM2, PMP22, PNPLA2, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PRDM12, PREPL, PRG4, PRKAG2, PRPS1, PRX, PUS1, PYGM, PYROXD1, RAB7A, RAPSN, RARS2, RBCK1, REEP1, RIPK4, RRM2B, RYR1, SBF1, SBF2, SCARF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO2, SEPN1, SETX, SGCA, SGCB, SGCD, SGCG, SH3TC2, SIGMAR1, SIL1, SKI, SLC12A6, SLC16A1, SLC18A3, SLC22A5, SLC25A1, SLC25A20, SLC25A4, SLC25A42, SLC35A3, SLC52A3, SLC5A7, SLC6A9, SMAD3, SMAD4, SMCHD1, SMN1, SMN2, SNAP25, SOX10, SPEG, SPG11, SPTLC1, SPTLC2, STAC3, STIM1, STIM2, SUCLA2, SURF1, SYNE1, SYNE2, SYT2, TAZ, TBCD, TCAP, TECPR2, TFG, TGFB2, TGFB3, TGFBR1, TGFBR2, TIA1, TK2, TMEM43, TMEM5, TNNI2, TNNT1, TNNT3, TNPO3, TOR1A, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRIM54, TRIM63, TRIP4, TRPA1, TRPV4, TSEN2, TSEN34, TSEN54, TTN, TTR, TYMP, UBA1, UTRN, VAMP1, VAPB, VCP, VIPAS39, VMA21, VPS33B, VRK1, WNK1, YARS, YARS2, ZBTB42, ZC4H2, ZMPSTE24 und ZNF335.

Core Gen-Panel (7 Gene; <25kb)
CHRNA1, CHRNB1, CHRNG, DOK7, RAPSN, CHRND, MUSK

Für jedes Gen des Panels bieten wir, bei entsprechender Indikation, auch die jeweilige Einzelgen-Diagnostik an.