NGS Fetal akinesia

NGS Fetal akinesia

Fetale Akinesie/Arthrogryposis Multiplex Congenita (AMC)

Associated medical conditions:
Fetal Akinesia Deformations Sequence (FADS) (OMIM 208150)
Multiple Pterygium Syndrome (OMIM 253290)
Congenital arthrogryposis with anterior horn cell disease (OMIM 611890)
Lethal congenital contracture syndrome 1 (OMIM 253310)

Fetal akinesia Panel (267 genes)
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, 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, ZMPSTE24.



  • How to order
    Order Form

    Place your order by email molekulargenetik@praenatal-medizin.de

  • Turnaround time
    2-3 weeks

  • Contact
    Priv.-Doz. Dr. med. M. Shoukier
    Dr. rer. nat. C. Bagowski molekulargenetik@praenatal-medizin.de

    Phone: +49 89 130744-0
    Fax: +49 89 130744-99

  • Ship the sample to our laboratory
    Material: DNA, Blood, Dried blood spot, Buccal swab, Chorionic villi (CVS), Amniotic fluid

    Shipping address:
    Pränatal-Medizin München
    Lachnerstr. 20
    80639 München
    Germany


  • Order specimen kit with sample tube, requisition form and prepaid return envelope by email.