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 (267 Gene; >25kb)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ADAMTS10, ADCY6, ADGRG6, ADSL, AGL, AGRN, AIMP1, ALG14, ALG2, ANO5, ANTXR2, ANXA3, ASCC1, ASXL1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CAPN3, CASK, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, CLCF1, CNTN1, CNTNAP1, COASY, COL12A1, COL13A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, CPT2, CRLF1, CRYAB, CTDP1, CUL4B, DAG1, DES, DHCR24, DHCR7, DMD, DMPK, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DUX4, DYSF, ECEL1, EGR2, EMD, ERBB3, ERCC5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EXOSC3, FAM111B, FAM20C, FBN2, FGFR2, FGFR3, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, FLVCR2, GAA, GARS, GBA, GBE1, GDAP1, GFER, GFPT1, GLDN, GLE1, GMPPB, GNE, GRN, HADH, HADHA, HADHB, HNRNPA1, HRAS, HSPG2, IBA57, IGHMBP2, IRF6, ISCU, ISPD, ITGA7, KAT6B, KBTBD13, KIAA1109, KLHL40, KLHL41, KLHL7, LAMA2, LAMB2, LAMP2, LARGE≙LARGE1, LDB3, LGI4, LMNA, LMOD3, LPIN1, MATR3, MEGF10, MFN2, MICU1, MPZ, MTM1, MTMR1, MUSK, MYBPC1, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYO9A, MYOT, NALCN, NEB, NEFL, NEK9, ORAI1, PABPN1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PI4KA, PIEZO2, PIP5K1C, PLEC, PLOD1, PLOD2, PMM2, PNPLA2, POLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PRG4, PSD3, PUS1, PYGM, RAPSN, RARS2, RBCK1, RIPK4, RRM2B, RYR1, SCARF2, SCN4A, SCO2, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SKI, SLC18A3, SLC22A5, SLC25A1, SLC25A4, SLC25A42, SLC35A3, SLC52A3, SLC5A7, SMAD3, SMAD4, SMCHD1, SMN1, SMN2, SMPD4, SNAP25, STAC3, STIM1, STIM2, SYNE1, SYNE2, SYT2, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TIA1, TK2, TMEM43, TMEM5, TMEM8C, TNNI2, TNNT1, TNNT3, TOR1AIP1, TPM2, TPM3, TRIM32, TRIP4, TRPV4, TSEN2, TSEN34, TSEN54, TTN, UBA1, UTRN, VAMP1, VCP, VIPAS39, VPS33B, VPS8, VRK1, YARS2, ZBTB42, ZC4H2 und ZMPSTE24.
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.
