NGS Fetale Akinesie

Fetale Akinesie/Arthrogryposis Multiplex Congenita (AMC)

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

Gen-Panel (139 Gene; >25kb)
ABHD5, ACADM, ACADS, ACADVL, ACTA1, ADSL, AGL, AGRN, AIMP1, ALG2, ANO5, BAG3, BIN1, CAPN3, CAV3, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHST14, CNTN1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, CTDP1, CUL4B, DES, DMD, DNAJB6, DNM2, DOK7, DPAGT1, DYSF, EGR2, EMD, ERBB3, ERCC6, ETFA, ETFB, ETFDH, EXOSC3, FAM20C, FBN2, FGFR2, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, GAA, GARS, GBA, GBE1, GDAP1, GFPT1, GLE1, GNE, HADH, HADHA, HADHB, HRAS, HSPG2, IGHMBP2, ISCU, ITGA7, KBTBD13, LAMA2, LAMP2, LARGE, LDB3, LMNA, LPIN1, MATR3, MEGF10, MFN2, MPZ, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH7, MYH8, MYOT, NEB, NEFL, PFKM, PIEZO2, PIP5K1C, PLEC, PLOD2, PNPLA2, POLG, POMGNT1, POMT1, POMT2, PYGM, RAPSN, RIPK4, RRM2B, RYR1, SCN5A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIL1, SLC22A5, SLC52A3, SYNE1, SYNE2, TCAP, TK2, TMEM43, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRIM32, TRPV4, TSEN2, TSEN34, TSEN54, TTN, UBA1, UTRN, VIPAS39, VPS33B, 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.