AGDx NGS – Movement disorders panel v2

Test code: V00292
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Genes

AARS2, ABCB7, ABCD1, ABHD12, ACTB, ADAR, ADCK3, ADCY5, ADGRG1, AFG3L2, ALDH18A1, ALDH3A2, ALS2, ANO10, ANO3, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARG1, ARSA, ARX, ASPA, ATCAY, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP2B3, ATP7B, B4GALNT1, BCAP31, BCKDHA, BCKDHB, BSCL2, C10orf2, C12orf65, C19orf12, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CAPN1, CCT5, CIZ1, COASY, COL4A1, COQ2, COQ9, COX20, CP, CSF1R, CSTB, CYP27A1, CYP2U1, CYP7B1, DBT, DCAF17, DCC, DCTN1, DDC, DDHD1, DDHD2, DLAT, DLD, DNAL4, DNMT1, ECHS1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELOVL5, ERLIN2, FA2H, FAR1, FBXO7, FGF14, FLVCR1, FOLR1, FRMD7, FTL, GALC, GAN, GBA, GBA2, GCDH, GCH1, GFAP, GJC2, GLB1, GNAL, GOSR2, GPR143, GRID2, GRM1, HEXB, HPRT1, HSPD1, ITPR1, KCNA1, KCNC1, KCNC3, KCND3, KCNJ10, KCNJ6, KCNMA1, KCTD7, KIAA0196, KIAA0226, KIAA2022, KIF1A, KIF1C, KIF5A, KMT2B, L1CAM, LAMA1, MARS2, MECP2, MECR, MICU1, MLC1, MMADHC, MRE11A, MTHFR, MTPAP, MTTP, NIPA1, NKX2-1, NOL3, NPC1, NPC2, NUP62, OPA1, PANK2, PAX6, PDE10A, PDE8B, PDGFB, PDGFRB, PDHA1, PDHX, PDSS1, PDSS2, PDYN, PEX10, PEX2, PEX7, PHYH, PIK3R5, PLA2G6, PLP1, PMM2, PMPCA, PNKD, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PREPL, PRKCG, PRKRA, PRRT2, PYCR2, RAB18, RAB3GAP1, RAB3GAP2, RAD51, REEP1, RNASEH2A, RNASEH2B, RNASEH2C, RNF170, RNF216, RTN2, SACS, SAMHD1, SCN11A, SCN8A, SERAC1, SETX, SGCE, SIL1, SLC12A6, SLC16A2, SLC19A3, SLC1A3, SLC20A2, SLC25A15, SLC2A1, SLC30A10, SLC33A1, SLC39A14, SLC52A2, SLC52A3, SLC6A3, SLC9A1, SMPD1, SNCA, SNX14, SOX10, SPAST, SPG11, SPG20, SPG21, SPG7, SPR, SPTBN2, STUB1, SUOX, SYNE1, TAF1, TANGO2, TBC1D20, TDP1, TECPR2, TENM4, TGM6, TH, THAP1, TIMM8A, TMEM240, TMEM67, TOR1A, TPP1, TREM2, TREX1, TSEN54, TTBK2, TTC19, TTPA, TUBA1A, TUBB4A, TUBG1, TYROBP, VAMP1, VCP, VLDLR, VPS13A, VPS37A, VRK1, WDR45, WDR81, WWOX, XK, XPR1, ZFYVE26, ZFYVE27, ZNF592

Lab method

NGS Sequencing

Turnaround time

4 months

Price  1.115,00

Disorders:

  • Fragile X tremor/ataxia syndrome (OMIM: 300623)
  • Fragile X tremor/ataxia syndrome (OMIM: 300623)
  • Leukoencephalopathy with ataxia (OMIM: 615651)