AGDx NGS – Fetal akinesia deformation sequence (FADS) panel v6

Test code: V00287
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Genes

ACTA1, ACVR1, ADCY6, ADGRG6, AGL, AGRN, ALG3, AMER1, ANO5, ASCC1, ATP1A3, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CACNA1S, CACNB2, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, CNTNAP1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, DAG1, DENND5A, DES, DHCR24, DMD, DMPK, DNA2, DNAJB6, DNM2, DNM3, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, ECEL1, EGR2, EMD, ENO3, ERBB3, ERCC5, ERCC6, EXOSC8, FAM111B, FAM20C, FBN2, FGFR2, FHL1, FKBP14, FKRP, FKTN, FLNC, FOXP3, GAA, GBA, GBE1, GFPT1, GLDN, GLE1, GNE, GYS1, HNRNPH1, HSPG2, IGHMBP2, IRF6, ISCU, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, KLHL9, LAMA2, LAMB2, LAMP2, LARGE, LDB3, LDHA, LMNA, LMOD3, LPIN1, MAGEL2, MATR3, MEGF10, MICU1, MPZ, MSTN, MTM1, MTMR14, MUSK, MYBPC1, MYBPC2, MYF6, MYH2, MYH3, MYH7, MYH8, MYOD1, MYOT, NEB, NEK9, ORAI1, PABPN1, PDHA1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PIGH, PIP5K1C, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRPS1, PTRF, PYGM, RAC1, RAPSN, RBCK1, RHEB, RIPK4, RRM2B, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SLC52A2, SLC52A3, SMCHD1, SMN1, SPEG, STIM1, STX1B, SYNE1, TANGO2, TCAP, TMEM5, TNNI2, TNNT1, TNNT3, TNPO3, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TTC19, TTN, UBA1, UTRN, VAMP2, VCP, VIPAS39, VMA21, VPS33B, VRK1, ZBTB33

Lab method

NGS Sequencing

Turnaround time

3 months

Location

Location VU

Price  1.440,00

Disorder(s)

  • Fetal akinesia
  • Fetal akinesia deformation sequence (OMIM: 208150)
  • Fetal akinesia