MCL - Targeted Genes and Methodology De...Encephalopathy Gene Panel - MC

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1 ÿ (#ÿ)*'$* %ÿ+, ÿÿ!"##$#%ÿ&'$ #-ÿÿ.$ ÿ [MUÿJÿLJHKJ\ÿ\[KHK]ÿPKLHKL_ ÿu\hljmÿjuÿuow\lphljmÿljÿhyÿjmÿj\]^u_ÿ`jbkxhljÿÿm\phÿkwkh[\ÿzkljhmÿx]ÿ[ÿwkkxuÿ[]ÿ\hkjhÿxhyu\lmÿ [OJUKLMÿÿHYÿJMÿJ\]^U_ÿFRSÿJUVKÿÿW\]XKMÿPYLJÿKPHLJÿQ`aTI[MUÿNOJHLHHLZÿXHYUÿLMÿWKKXUÿHÿHMHÿKÿHYÿWKMJPÿ FGHIJKHLJÿMNOJPLJÿQFRSTÿJUVKÿSJKÿMNOJPLJÿLMÿWKKXUÿHÿHMHÿKÿHYÿWKMJPÿÿZKLJHMÿLJÿPULJÿKLJMÿJUÿLJHKJVGJÿ RJXLPÿcOL\UdÿRa`YefÿQYgTÿOJ\MMÿHYKhLMÿMWPLbU ijkj w wxwy w ƒ ljmjnjkojÿqnrksontuvr Fz{ } ~~_~ Fz{ g_e Fz{ ~~~_e ijkj Fz{ ee_ˆ w w w w x w wœ wžœ w Š w y Fz{ }~_ˆ Fz{ ˆ} _ˆ Fz{ ~}~_~ Fz{ e}_e Fz{ ~}_f Fz{ e~_e w w w w Fz{ _e Fz{ ~fg~_e wš Fz{ }~ _} Fz{ eˆê_e ljmjnjkojÿqnrksontuvr w y ÿ w w Œ Œ w w w y Fz{ ggg}}_e Fz{ ˆ_ˆ Fz{ ˆ ~_ˆ Fz{ }_ œx œw Fz{ eg_} œ Fz{ e}e}g_} Fz{ fˆ_e Fz{ }f_ˆ Fz{ fˆ}_ˆ Fz{ fˆˆ_~ Fz{ e _ˆ w Œš w Fz{eg _e Fz{ffg}ˆ_ Fz{ _e Fz{ e}efˆ_ˆ Fz{ ~ˆ} _e wy w wy w wšw x wšœš wyœ wy Fz{ f }~_} Fz{eêe~_e w ÿ w y œyœw œ œ Fz{ ˆ}ê}_ Fz{ ~ĝe_ˆ x w x Š Fz{ f }_ˆ œ œ Fz{ ˆˆ_~ Fz{ ĝ_ˆ Fz{ e}efˆ_ˆ Fz{ f}_e Fz{e~ e_ˆ Fz{ e}e}_ˆ x wy Fz{}}g~_ žÿ Fz{eˆ}_ˆ Fz{ ˆg_ w w œw w Fz{ }f}}_ Fz{ _ˆ w œw Fz{ f}_ˆ Fz{ ê}_ w œw Fz{ ~ e _ˆ Fz{}}}_e FS ˆ eef_~ Fz{ ~gf_ Fz{}ˆf~_e Fz{ ~ e_ Fz{ ˆ_~ w Fz{ êˆ_ Fz{}fê_ˆ w š Fz{ e e_ˆ Fz{ } }ˆf_ Fz{ } e}_ˆ Fz{ êf~_f ŠŒ y Fz{ g_e Fz{ }_e w Š Fz{ }ˆef_ˆ Fz{ _e Šyx yš yšœ xfz{}fe_ Fz{ efge_ˆ Fz{fe_e Fz{ e_e Fz{ g g_

2 GVWGHX GGQRQ GGH IJKLLSPYNUOT IJKLLSSNTPSUOT IJKLLLMNLOP Gd_eHX G^_WZ` GbQac IJKLLLMNSOP GZ[\] GaG IJKLLSSMPSSUO IJKLLSNO IJKLLLSLYO Gi\g`_ Gdbà GfHgh Gdb` IJKLLSMSNNNOS IJKLLPPLYOP IJKLSLUO IJKLSNOT VV[`_c V_\jc IJKLLSLYTUSPO IJKLLSNYO IJKLLSTNUOP [_jkggc V^[c_gc IJKLPMMO VZbk`] VWbc_ [_\jc VkZV` IJKLLSSTUSOT [lqam IJKLLUMLOP IJKLSPNMO [g\w [lẁ IJKLLUUMO [gkd [Z IJKLLSLMNYLOS IJKLLLLMOP IJKLSSULOP IJKLLLSPTOT IJKLPTLSO IJKLSPNNOT [fq\vg` n_ll\c [fqn` [fa\` [ad_ IJKLLSPUOT n_l\_` [\\jà IJKLSUMOT IJKLLPNO IJKLSNSSO IJKLLPYOY IJKLSPTTPOT IJKLSMPMOP IJKLLLYLUO n_l\lc] n_l\nc n_l\lr n_bk n[b` n_kb nhg IJKLLLSUO IJKLLLSUOU IJKLLSPYOT IJKLLLYSUOT IJKLLLYSPOU na\_` nagh IJKLLLSMLO IJKLLLSMSOP IJKLPNNUO naoa IJKLLNYYOT IJKLLLUOU nfj\c] nd_f`] nw ` nwhr IJKLLTYLSOP IJKLLPYMOP n\^dcl n\^dc_ n\^d` n\^_r nwzd IJKLLLYTTO IJKLLLYYOP IJKLLPPYPOP IJKLLYLUOP ZH[H` ZHd` nijc IJKLLTTPOT IJKLSNMOP IJKLSLMOP IJKLLLYTPOP IJKLLMTMOP ZjG`hl`p Zd\dWo Z^lHZ IJKLSPTUOP ^V\R^Ẁ ^_\jc IJKLTSYPPOT ^qjvhc ^l_xh ^GZc IJKLLSLSLYUMOP IJKLLSUYOT IJKLLPPNTOT ^kw_ IJKLLSSSSSOT IJKLTTPTOP IJKLSULNMO IJKLSYLULOP IJKLLSSNTPUUO g_djà] ghd_c ghd_` IJKLLLSMOT ghdèp ghdz` ghdl` ghdh` IJKLLSSSMPSOS IJKSMTUOT IJKLLPSO IJKLLPNMPOP ghdb_` IJKLLSMSLO IJKLLPMOP IJKLLPNMOP ggbxh ggbr_ ghdqc ghdqr ghdk` ghkgh IJKSMSLMOP g\^k` IJKSNPPUOS IJKLLPSYMOP IJKLLPSNOP IJKLPYYPOT IJKSTLTTOP IJKLLYOT IJKLSSPLOT aczngz] a_\nv` a_b_c IJKLLPMTMOU IJKLLLPUOT

3 GIST GHIJ KLM[\OQR KLMNNNOPQR KLMNNUVOQR GWXXWYZ ]ayxb ]acby ]^_` KLMNN[[[NPO\Q\ KLMN[V\VQR KLMNNROO\Q ]fytb ]fytj ]ct_d ]IYeJ KLMNN\OPQ ]gc]g KLM[\PPVQ KLMNNUNPPQ KLMNNORQ KLM[PUVNUQR KLMNNR[Q h_ecsb h_ecsj hsgyh ]gfw ]gfj KLMNNRR[QR KLM[O\R\QR KLMN[\[\QR KLMNNROVQR KLMN\VUPQR h_ecsck h_ecsc` h_ecscb h_ecsci h_ecscj KLM[PRVVOQ KLMN\R[\NQ KLMN[R[UQR KLMNN\RVVQR h_ectj h_ectj KLMNNNNUQP KLM[\R[UQR KLMNN\ROQR KLM[OONUOQ\ h_ectk h_ectd h_ectl h_ecmj haysxj KLMNNP[NQR KLMN[\PPQU KLMNNRQ KLMNN\ROUQR KLMN\RRNPQ KLMN[NOQR ha jgz hfgypi hpgwyj han]ic hxwgb hhgoj haej KLMNN[NNVPQ KLM[OVVUQ KLMNNNRQ KLMNNNRRQR KLMN[V\OPQR hwwft hwjsb hxwgi hwbcj KLMNN[NPPNQ KLMNNURQ KLMNNURQU KLMNNU[VUQR KLM[OVUQ fge_k^ KLMNN[[UOQ\ hwnhjz KLMNN\VQR fyghqrz fxphj Xjpg] XSYTb XSYTJ fc_j KLMNN[[NNO[Q KLMNNU[[Q KLM[PPOVQ\ KLMNNNRNQR KLMN[VN\UQR KLMNN\RPQ KLMN[UN\Q XScSpJ^JZ X_Y_Ju XY_pJt XY_pJb X_pSJ KLMNN\PVQ XSsiZ X_p^ X_pn KLMNN[[VRVVNQ\ KLMNNN\VRQR KLM[RVUNQ[ KLMN[UVNQ X_XJ KLMNNRPPQ KLMN\NV[QR KLMN[VRRRQR KLMNNNO\QR X_TTbZ XpH_p Xpck Xanl XIHH XIHs XIHS KLMNNN\VVQR XIHG KLMNN[[\P[PVQ KLMNNUU\QR KLMNNR\PVQR KLMNN\UR[Q KLMNNRV\Q KLMN\RVQ XIH] KLM[PUPVPQ KLM[R[UPQ XIHhZ XIHf XIHv KLMN\URQR XIHw XIHe XIHT XIHm XIHg KLMN[PVPQ KLMNNR\NRQR KLMNVNRPUQR KLMN[OVQR KLMN[OPQU XhXGSd XGX^X XGY^J XhsX XGXJ KLMNNP\RQR KLMN[[O\QR KLMNNNQ KLM[PV[PQR XhXf XfGH KLMN[P\Q KLMN[V[\OQR KLMNN\UOQ\ KLMNNP[OVQR

4 GHIJKLM GGGWZ[\ GHILW GHILM GGLM NOPQQ]YV NOPQRSSTUVT NOPQQSRSRVT NOPQRTTXYV Z_bcJ_GM Z_bcdb `_ZaM GZZLW G^Z_ NOPQQQTRQVT Z_e_ NOPQRYYTTVT NOPRSRUUXV NOPRYTUVT NOPQQXUV NOPQQQRVT NOPQQQYV NOPQRUUQVT Z_eJ_G_Mf NOPQQ]Y]SV Z_KbGWghf Z_ZaW NOPQYQTYQV ak_zbw ZIK\M ZZIWb ZHJ\j NOPQQQV akkm_ a_lbw ZieKf NOPQQRR]U]TVT NOPQRSUQUV NOPQRSRTV NOPQRY]V NOPQQRQTSV NOPQYXUVY NOPQQQ]V akkmbf akkc_ akkw_ NOPQQRQQRTVY NOPQYRQQSVT NOPQQ]UYYV aizgjkjm a\m_nm akkl_ akhw NOPQQRQY]TRVY NOPQQRTTQY]QVY NOPQRRURV NOPQQRTXVY NOPQTYX]RV aekmc_[ aekmw_[ aiz_kmf ailbgm NOPQRRUV] NOPQQQYV NOPQRUVT ail\wf ajom NOPRSTTV NOPQYQSQXV aekw[_ww aekw[_mw aekmd_c aekmp_m NOPQQTQRVT NOPRSSQV NOPQYYTV NOPQQUXV NOPQQTSQV NOPQY]UXV] aekc[_w aekw_m NOPQQRQYUXVT NOPQQ]R]VT ai_zk_w NOPQRYYTVT aekc[_cf aekd_p aekp_l aekp_m NOPQQRQYTSVR NOPQQTQYV NOPQQ]YUV aikm_ NOPQQ]TUVT ak_gw[ ak_gwd aia NOPQQTQXRV NOPRTQXRRVT NOPQQSXYV NOPQQ]TQ]V NOPQQUV NOPQQTQSQV alcj_ec alcj_e[ agl_km ag_l_[ akqwr agz NOPQQRRTQTXVT NOPQTQURXV] alz_\_ NOPRYQSVT alqmb NOPQQRQQTSXSV NOPQQ]YSUV NOPQQTXU]V NOPQQTRYV a^ke_w alqbgm a^hq askm NOPQQRQTYYYRV NOPQQQ]VT NOPQQTXQVY NOPQYXSV NOPQQ]SSYVT NOPRTTUUVY NOPQQTR]V askj_gmf LbkM\Wv LbeMqZM asktm Lknv aulw asg NOPQQRRUURQSVY NOPQRYXV NOPQQTXUVT LGoM NOPQQRQXTU]YVY NOPQYYV NOPQY]]V] NOPQQTRSUVY LakW LakM LGGM NOPQQRRSY]U]VY NOPQQQXV NOPQQQT]XV NOPQQQTURV L^b_M_f L^b_l LanIf NOPQRXUTVT NOPQQ]QQUV NOPRSXQRYV L^bbWbf

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