Xpanded^® - Adult Movement Disorders Panel

Genes

AAAS, AARS, AARS2, ABCA1, ABCA7, ABCD1, ABHD12, ACE, ACTA2, ADCK3, ADCY5, ADRA2B, ADSSL1, AFG3L2, AIMP1, AIP, ALDH18A1, ALPL, AMACR, ANG, ANO10, ANO3, ANO5, AP2S1, AP5Z1, APP, ARHGEF10, ARL6IP1, ARSA, ARSG, ARSI, ASPA, ASS1, ATAD3A, ATF4, ATL1, ATL3, ATM, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP2B2, ATP2B3, ATP2B4, ATP6AP2, ATP7B, BAG3, BIN1, BSCL2, BVES, C10orf2, C12orf65, C19orf12, CACNA1A, CACNA1G, CACNA1H, CACNA1S, CAMTA2, CAPN1, CAPN3, CAV3, CCDC88C, CECR1, CEP164, CHCHD10, CHCHD2, CHMP2B, CISD2, CIZ1, CLCN1, CLCN2, CLN5, CNNM2, CNTN2, COASY, COL12A1, COL13A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COMT, COQ5, CP, CPT1C, CRYAB, CSF1R, CTC1, CTSA, CTSF, CYP27A1, CYP7B1, DARS2, DCAF17, DCAF8, DCTN1, DDHD2, DES, DHTKD1, DLGAP4, DMD, DNA2, DNAJB2, DNAJB6, DNAJC13, DNAJC3, DNAJC5, DNAJC6, DNM2, DNMT1, DRD3, DRP2, DYSF, EBP, EEF2, EGR2, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELOVL4, ELOVL5, EMD, EPB41L4A, EPM2A, EPRS, ERBB4, ERLIN1, ERLIN2, F2, FA2H, FAN1, FARS2, FAT2, FBLN5, FBXO38, FBXO7, FDX1L, FGA, FGB, FGD4, FGF14, FHL1, FIG4, FKRP, FKTN, FLNC, FLRT1, FLVCR1, FTL, FUS, FXN, GAA, GALC, GAN, GARS, GBA, GBE1, GCDH, GCH1, GDAP1, GDAP2, GFAP, GFPT1, GIGYF2, GJB1, GJC2, GLA, GLB1, GLDC, GLRA1, GMPPB, GNAL, GNB4, GNE, GRM1, GRN, GTPBP2, GYG1, HABP2, HADHB, HARS, HCRT, HEPACAM, HEXA, HEXB, HINT1, HK1, HNRNPA1, HNRNPA2B1, HNRNPDL, HPCA, HRAS, HSD17B4, HSPB1, HSPB3, HSPB8, HSPD1, HTRA1, IBA57, IDH1, IFRD1, IL6, INF2, IRF2BPL, ISPD, ITM2B, ITPR1, ITPR3, JPH1, KCNA1, KCNA2, KCNB2, KCNC3, KCNC4, KCND3, KCNJ11, KCNJ2, KCTD17, KIAA0196, KIAA1161, KIF1A, KIF1B, KIF1C, KIF5A, KLC2, KLHL1, KLHL9, KY, LAMP2, LDB3, LINGO1, LITAF, LMNA, LMNB1, LRP1, LRRK2, LRSAM1, LYST, MAG, MAPT, MARS, MATR3, MCCC1, MCCC2, MECR, MEN1, MFN2, MFSD8, MGME1, MME, MOG, MORC2, MPV17, MPZ, MRE11A, MSTO1, MTHFR, MTMR14, MTR, MTTP, MYF6, MYH14, MYH2, MYH7, MYOT, MYPN, NAGS, NARS2, NDRG1, NDUFS7, NEFH, NEFL, NEU1, NF2, NHLRC1, NIPA1, NOL3, NOTCH3, NPC1, NPC2, NTN1, OPA1, OPA3, OPTN, ORAI1, OTC, P2RY12, PABPN1, PANK2, PARK7, PDE2A, PDE8B, PDGFB, PDGFRB, PDHA1, PDK3, PDYN, PEX10, PFN1, PGK1, PHKA1, PHYH, PI4K2A, PIK3R5, PINK1, PLD3, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PMPCA, PNKD, PNKP, PNPLA2, PNPLA6, POLG, POLG2, POLR3A, POMGNT2, PPT1, PREX2, PRF1, PRKCG, PRKRA, PRNP, PRPS1, PRRT2, PRX, PSEN1, PSEN2, PSMB8, PTPLA, PUM1, PYGM, QKI, RAB39B, RAB7A, RANBP2, REEP1, REEP2, RNASEH1, RNF170, RNF213, RNF216, RRM2B, RTN2, RYR1, SACS, SAMD9L, SAMHD1, SAR1B, SBF1, SCARB2, SCN10A, SCN4A, SCP2, SDHA, SDHB, SEMA3E, SEPT9, SERPINI1, SETX, SGCA, SGCB, SGCD, SGCE, SGCG, SGPL1, SH3BP4, SH3TC2, SLC12A3, SLC16A2, SLC1A3, SLC20A2, SLC22A5, SLC25A15, SLC25A32, SLC25A46, SLC30A10, SLC4A1, SLC52A3, SLC5A7, SLC6A19, SLC6A8, SLC9A1, SMN1, SNCA, SOD1, SORL1, SPAST, SPEG, SPG11, SPG20, SPG21, SPG7, SPR, SPTBN2, SPTLC1, SQSTM1, STIM1, STUB1, SUFU, SYNE1, SYNE2, SYNJ1, SYT14, TACR3, TAF1, TAF4, TARDBP, TBK1, TBXAS1, TCAP, TDP1, TENM4, TERT, TFG, TGFB1, TGM6, TH, THAP1, TIA1, TIMM8A, TK2, TMEM240, TMEM43, TOP3A, TOR1A, TOR1AIP1, TPK1, TREM2, TRIM32, TRNT1, TRPA1, TRPC3, TRPV4, TTBK2, TTC19, TTN, TTPA, TTR, TYMP, TYROBP, UBAP1, UBQLN2, UBQLN4, UBR4, UCHL1, VAMP1, VAPB, VCP, VEGFA, VPS13A, VPS13C, VPS13D, VPS35, VRK1, VWA3B, VWF, WFS1, XK, XPNPEP3, XPR1, XRCC1, ZFYVE26, ZFYVE27

Conditions

• Amyotrophic lateral sclerosis (ALS)
• Ataxia
• Chorea
• Dystonia
• Movement Disorder
• Neuropathy
• Parkinson Disease
• Parkinsonism
• Spinocerebellar Ataxia

Lab Method

• Next-Gen Sequencing