{"id":2641,"date":"2020-04-08T23:12:07","date_gmt":"2020-04-08T15:12:07","guid":{"rendered":"https:\/\/geneusmtc.com\/?page_id=2641"},"modified":"2020-04-20T01:40:10","modified_gmt":"2020-04-19T17:40:10","slug":"%e5%ad%95%e5%89%8d%e5%85%88%e7%9f%a5%e6%aa%a2%e6%b8%ac%e5%a5%97%e4%bb%b6","status":"publish","type":"page","link":"https:\/\/geneusmtc.com\/service\/%e5%ad%95%e5%89%8d%e5%85%88%e7%9f%a5%e6%aa%a2%e6%b8%ac%e5%a5%97%e4%bb%b6\/","title":{"rendered":""},"content":{"rendered":"<p><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"background-color: rgba(255,255,255,0);background-position: left top;background-repeat: no-repeat;padding-top:100px;padding-right:0px;padding-bottom:75px;padding-left:0px;margin-bottom: 0px;margin-top: 0px;border-width: 0px 0px 0px 0px;border-color:#eae9e9;border-style:solid;\" ><div class=\"fusion-builder-row fusion-row\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-one-full fusion-column-first fusion-column-last\" style=\"margin-top:0px;margin-bottom:0px;\"><div class=\"fusion-column-wrapper fusion-flex-column-wrapper-legacy\" style=\"background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;background-color:#ffffff;border:0px solid #dddddd;padding: 0px 20px 0px 20px;\"><div class=\"fusion-text fusion-text-1\"><h2><strong>\u5b55\u524d\u5148\u77e5<\/strong><\/h2>\n<\/div><div class=\"fusion-text fusion-text-2\"><p>\u5b55\u524d\u5148\u77e5\u5206\u6790\u5167\u5bb9\u70ba\u8207\u61f7\u5b55\u524d\u5fc5\u5148\u4e86\u89e3\u7684\u907a\u50b3\u6027\u75be\u75c5\u6709\u95dc\u7684 159\u500b\u57fa\u56e0\uff1a<\/p>\n<p>ABCC8, ABCD1, ACADM, ACADVL, ADA, ADAMTS2, AGA, AGL, AGXT, ALDH3A2, ALDOB, ALPL, AMT, ARSA, ASL, ASPA, ASS1, ATM, ATP7B, BBS1, BBS10, BBS2, BCKDHA, BCKDHB, BCS1L, BLM, BTD, BTK, CAPN3, CBS, CDH23, CFTR, CHAT, CHRNE, CLN3, CLN5, CLN6, CLN8, CLRN1, COL4A3, CPT1A, CPT2, CTNS, CTSK, CYBB, CYP1B1, CYP27A1, DBT, DCLRE1C, DHCR7, DHDDS, DLD, DMD, DOK7 , DPYD, EIF2B5, ETHE1, FAH, FANCC, FH, FKTN, FMR1, G6PC, G6PD, GAA, GALC, GALT, GBA, GCDH, GJB2, GJB6, GLB1, GLDC, GNE, GNPTAB, GRHPR, HADHA, HBA1 , HBA2, HBB, HEXA, HEXB, HMGCL, HPS3, HSD17B4, IDUA, IKBKAP, IL2RG, IVD, LAMA3, LAMB3, LAMC2, LRPPRC, MAN2B1, MCOLN1, MECP2, MLC1, MMACHC, MPI, MPL, MTTP, MYO7A, NBN, NEB, NPC1, NPHP1, NPHS1, NPHS2, OCRL, OTC,PAH, PC, PCCA, PCCB, PCDH15, PEX1, PEX2, PEX7, PHGDH, PKHD1, PLA2G6, PMM2, POLG, POMGNT1, PPT1, PROP1, PTS, RAPSN, RMRP, RTEL1, SACS, SERPINA1, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC26A4, SLC35A3, SLC37A4, SLC7A7, SMN1, SMPD1, SUMF1, TGM1, TH, TMEM216, TPP1, TTPA, UBE3A, UGT1A1, USH1C, USH2A, WAS.<\/p>\n<p>\u8a31\u591a\u7236\u6bcd\u5728\u8a08\u5283\u751f\u7522\u524d\u6703\u64d4\u5fc3\u907a\u50b3\u6027\u7684\u75be\u75c5\uff0c\u56e0\u6b64\u6676\u6e96\u91ab\u5b78\u63d0\u4f9b\u4e86\u5b55\u524d\u5148\u77e5\uff0c\u53ea\u9700\u8981\u7236\u6bcd\u7684\u5c11\u8a31\u553e\u6db2\u4fbf\u53ef\u4ee5\u5f97\u77e5\u5b69\u5b50\u5f97\u5230\u907a\u50b3\u6027\u75be\u75c5\u7684\u6dfa\u5728\u98a8\u96aa\uff0c\u4eba\u985e23\u5c0d\u67d3\u8272\u9ad4\u4e2d\uff0c1\u5c0d\u67d3\u8272\u9ad4\u6c7a\u5b9a\u6027\u5225\u76f8\u95dc\u907a\u50b3\u8a0a\u606f\uff0c22\u5c0d\u8207\u6027\u5225\u7121\u95dc\u7684\u67d3\u8272\u9ad4\u4e0a\u4e5f\u6709\u8a31\u591a\u907a\u50b3\u7684\u8a0a\u606f\uff0c\u9019\u4e9b\u6240\u8b02\u7684\u907a\u50b3\u8a0a\u606f\u5c31\u662f\u57fa\u56e0\uff0c\u9019\u4e9b\u57fa\u56e0\u6307\u5c0e\u7d30\u80de\u8a72\u5982\u4f55\u751f\u9577\u53ca\u5206\u5316\u3002\u800c\u79d1\u5b78\u5bb6\u53ef\u4ee5\u7814\u7a76\u4e00\u500b\u4eba\u7684\u57fa\u56e0\u5df2\u78ba\u5b9a\u57fa\u56e0\u662f\u5426\u6709\u8b8a\u7570\uff0c\u5728\u96b1\u6027\u7a81\u8b8a\u4e2d\uff0c\u5982\u679c\u7236\u6bcd\u50c5\u662f\u5e36\u539f\u8005\uff0c\u81f4\u75c5\u6027\u7684\u7a81\u8b8a\u5f80\u5f80\u4e0d\u6613\u5bdf\u89ba\uff0c\u5fc5\u9808\u8981\u9760\u57fa\u56e0\u6aa2\u6e2c\u7684\u65b9\u5f0f\u624d\u80fd\u5f97\u77e5\u7236\u6bcd\u57fa\u56e0\u7684\u8b8a\u7570\u53ca\u5b50\u5973\u7684\u98a8\u96aa\uff1b\u82e5\u7236\u6bcd\u96d9\u65b9\u90fd\u662f\u5e36\u539f\u8005\uff0c\u5b50\u5973\u70ba\u5e36\u539f\u8005\u7684\u6a5f\u7387\u662f50%\uff0c\u81f4\u75c5\u7684\u6a5f\u7387\u662f25%\uff0c\u70ba\u5065\u5eb7\u4eba\u7684\u6a5f\u7387\u4e5f\u662f25%\uff0c\u4f46\u5728\u6bcd\u89aa\u70ba\u5e36\u539f\u8005\u7684\u6027\u806f\u907a\u50b3\u75be\u75c5\u4e2d\uff0c\u5b50\u5973\u7f79\u60a3\u75be\u75c5\u7684\u6a5f\u7387\u70ba50%\u3002<\/p>\n<p>\u672c\u6aa2\u6e2c\u5167\u5bb9\uff0c\u9664\u4e86\u5730\u4e2d\u6d77\u578b\u8ca7\u8840\u3001\u8836\u8c46\u75c7\u53ca\u6ce1\u6ce1\u9f8d\u75c7\u7b49\u5e38\u898b\u7684\u907a\u50b3\u75be\u75c5\u5916\uff0c\u6709\u4e9b\u56b4\u91cd\u7684\u75c5\u7406\u8b8a\u7570\uff0c\u4f8b\u5982\u88d8\u99a8\u6c0f\u808c\u8089\u5931\u990a\u75c7\u3001\u5730\u4e2d\u6d77\u8ca7\u8840\u3001MECP2\u7d9c\u5408\u75c7\u5019\u7fa4\uff0c\u4e26\u672a\u88ab\u7d0d\u5165\u57fa\u56e0\u5e38\u898f\u5e36\u539f\u6aa2\u6e2c\uff0c\u800c\u9019\u4e9b\u98a8\u96aa\u5f80\u5f80\u6703\u56e0\u70ba\u75c5\u4eba\u4e4b\u9593\u57fa\u56e0\u72c0\u6cc1\u7684\u4e0d\u540c\u800c\u6709\u8457\u6975\u5927\u7684\u5dee\u7570\uff0c\u56e0\u6b64\u5728\u5b55\u524d\u5148\u77e5\u7684\u6aa2\u6e2c\u5957\u4ef6\u4e2d\uff0c\u6676\u6e96\u516c\u53f8\u5c07\u9019\u4e9b\u57fa\u56e0\u6aa2\u6e2c\u4e00\u4e00\u7d0d\u5165\uff0c\u8b93\u8a08\u756b\u61f7\u5b55\u7684\u7236\u6bcd\u6709\u8a73\u7d30\u7684\u8cc7\u8a0a\uff0c\u5e0c\u671b\u80fd\u65e9\u671f\u767c\u73fe\u65e9\u671f\u9632\u7bc4\u6216\u6cbb\u7642\u3002<\/p>\n<\/div><style type=\"text\/css\"><\/style><div class=\"fusion-title title fusion-title-1 fusion-sep-none fusion-title-text fusion-title-size-one\" style=\"margin-top:0px;margin-right:0px;margin-bottom:0px;margin-left:0px;\"><h1 class=\"title-heading-left fusion-responsive-typography-calculated\" style=\"margin:0;--fontSize:80;line-height:1;\"><h2 style=\"text-align: center;\">\u57fa\u56e0\u53ca\u76f8\u95dc\u75be\u75c5<\/h2><\/h1><\/div>\n<div class=\"table-1\">\n<table style=\"height: 12008px;\" width=\"1116\">\n<tbody>\n<tr>\n<td width=\"87\">\u57fa\u56e0<\/td>\n<td width=\"283\">\u75be\u75c5<\/td>\n<td width=\"253\">\u75be\u75c5\u4e2d\u6587\u540d<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ABCC8<\/td>\n<td width=\"283\">Familial Hyperinsulinism<\/td>\n<td width=\"253\">\u5bb6\u65cf\u6027\u80f0\u5cf6\u7d20\u904e\u591a\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ABCD1<\/td>\n<td width=\"283\">Adrenoleukodystrophy<\/td>\n<td width=\"253\">\u814e\u4e0a\u817a\u8166\u767d\u8cea\u5931\u990a\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ACADM<\/td>\n<td width=\"283\">Medium Chain Acyl-CoA Dehydrogenase Deficiency<\/td>\n<td width=\"253\">\u4e2d\u93c8\u8102\u80aa\u9178\u53bb\u6c2b\u9175\u7d20\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ACADVL<\/td>\n<td width=\"283\">Very Long-Chain Acyl-CoA Dehydrogenase Deficiency<\/td>\n<td width=\"253\">\u6975\u9577\u93c8\u91af\u8f14\u9176A\u53bb\u6c2b\u9176\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ADA<\/td>\n<td width=\"283\">Adenosine Deaminase Deficiency<\/td>\n<td width=\"253\">\u817a\u82f7\u812b\u6c28\u9176\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ADAMTS2<\/td>\n<td width=\"283\">Ehlers-Danlos Syndrome VIIc<\/td>\n<td width=\"253\">\u9b06\u76ae\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">AGA<\/td>\n<td width=\"283\">Aspartylglucosaminuria<\/td>\n<td width=\"253\">\u5929\u51ac\u6c28\u9170\u8461\u8404\u7cd6\u80fa\u5c3f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">AGL<\/td>\n<td width=\"283\">Glycogen Storage Disease: Type III<\/td>\n<td width=\"253\">\u7b2c\u4e09\u578b\u809d\u91a3\u5132\u7a4d\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">AGXT<\/td>\n<td width=\"283\">Primary Hyperoxaluria: Type 1<\/td>\n<td width=\"253\">\u539f\u767c\u6027\u9ad8\u8349\u9178\u5c3f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ALDH3A2<\/td>\n<td width=\"283\">Sjogren-Larsson Syndrome<\/td>\n<td width=\"253\">\u9ce9\u62c9\u4e8c\u6c0f\u75c7\u5019\u7fa4(\u5305\u62ec\u4e7e\u6027\u89d2\u819c\u7d50\u819c\u708e)<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ALDOB<\/td>\n<td width=\"283\">Hereditary Fructose Intolerance<\/td>\n<td width=\"253\">\u907a\u50b3\u6027\u679c\u7cd6\u4e0d\u8010\u53d7\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ALPL<\/td>\n<td width=\"283\">Hypophosphatasia<\/td>\n<td width=\"253\">\u4f4e\u78f7\u9178\u916f\u9176\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">AMT<\/td>\n<td width=\"283\">Glycine Encephalopathy<\/td>\n<td width=\"253\">\u7518\u80fa\u9178\u8166\u75c5\u8b8a<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ARSA<\/td>\n<td width=\"283\">Metachromatic Leukodystrophy<\/td>\n<td width=\"253\">\u7570\u67d3\u6027\u8166\u767d\u8cea\u9000\u5316\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ASL<\/td>\n<td width=\"283\">Argininosuccinate Lyase Deficiency<\/td>\n<td width=\"253\">\u7cbe\u80fa\u4e01\u4e8c\u9178\u9175\u7d20\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ASPA<\/td>\n<td width=\"283\">Canavan Disease<\/td>\n<td width=\"253\">\u5361\u7d0d\u842c\u75c5<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ASS1<\/td>\n<td width=\"283\">Citrullinemia Type 1<\/td>\n<td width=\"253\">\u74dc\u80fa\u9178\u8840\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ATM<\/td>\n<td width=\"283\">Ataxia-Telangiectasia<\/td>\n<td width=\"253\">\u5171\u6fdf\u5931\u8abf\u5fae\u8840\u7ba1\u64f4\u5f35\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ATP7B<\/td>\n<td width=\"283\">Wilson Disease<\/td>\n<td width=\"253\">\u5a01\u723e\u68ee\u6c0f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">BBS1<\/td>\n<td width=\"283\">Bardet-Biedl Syndrome: BBS1 Related<\/td>\n<td width=\"253\">\u7562\u5fb7\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">BBS10<\/td>\n<td width=\"283\">Bardet-Biedl Syndrome:BBS10 Related<\/td>\n<td width=\"253\">\u7562\u5fb7\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">BBS2<\/td>\n<td width=\"283\">Bardet-Biedl Syndrome: BBS2 Related<\/td>\n<td width=\"253\">\u7562\u5fb7\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">BCKDHA<\/td>\n<td width=\"283\">Maple Syrup Urine Disease: Type 1A<\/td>\n<td width=\"253\">\u6953\u7cd6\u5c3f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">BCKDHB<\/td>\n<td width=\"283\">Maple Syrup Urine Disease: Type 1B<\/td>\n<td width=\"253\">\u6953\u7cd6\u5c3f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">BCS1L<\/td>\n<td width=\"283\">GRACILE Syndrome<\/td>\n<td width=\"253\">GRACILE\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">BLM<\/td>\n<td width=\"283\">Bloom Syndrome<\/td>\n<td width=\"253\">\u5e03\u76e7\u59c6\u662f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">BTD<\/td>\n<td width=\"283\">Biotinidase Deficiency<\/td>\n<td width=\"253\">\u751f\u7269\u7d20\u9176\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">BTK<\/td>\n<td width=\"283\">Agammaglobulinemia, X-linked 1<\/td>\n<td width=\"253\">X-\u9023\u9396\u7121\u4e19\u7a2e\u7403\u86cb\u767d\u8840\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CAPN3<\/td>\n<td width=\"283\">Limb-Girdle Muscular Dystrophy,Type 2A<\/td>\n<td width=\"253\">\u80a2\u5e36\u578b\u808c\u8089\u5931\u990a\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CBS<\/td>\n<td width=\"283\">Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency<\/td>\n<td width=\"253\">\u9ad8\u80f1\u80fa\u9178\u5c3f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CDH23<\/td>\n<td width=\"283\">Usher Syndrome: Type 1D<\/td>\n<td width=\"253\">\u5c24\u585e\u6c0f\u7d9c\u5408\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CFTR<\/td>\n<td width=\"283\">Cystic Fibrosis<\/td>\n<td width=\"253\">\u56ca\u72c0\u7e96\u7dad\u5316<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CHAT<\/td>\n<td width=\"283\">Congenital Myasthenic Syndrome,CHAT Related<\/td>\n<td width=\"253\">\u5148\u5929\u6027\u808c\u7121\u529b\u7d9c\u5408\u5f81<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CHRNE<\/td>\n<td width=\"283\">Congenital Myasthenic Syndrome, CHRNE Related<\/td>\n<td width=\"253\">\u5148\u5929\u6027\u808c\u7121\u529b\u7d9c\u5408\u5f81<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CLN3<\/td>\n<td width=\"283\">Neuronal Ceroid Lipofuscinosis,CLN3 Related<\/td>\n<td width=\"253\">\u795e\u7d93\u5143\u881f\u6a23\u8102\u8910\u8cea\u5132\u7a4d\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CLN5<\/td>\n<td width=\"283\">Neuronal Ceroid Lipofuscinosis,CLN5 Related<\/td>\n<td width=\"253\">\u795e\u7d93\u5143\u881f\u6a23\u8102\u8910\u8cea\u5132\u7a4d\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CLN6<\/td>\n<td width=\"283\">Neuronal Ceroid Lipofuscinosis,CLN6 Related<\/td>\n<td width=\"253\">\u795e\u7d93\u5143\u881f\u6a23\u8102\u8910\u8cea\u5132\u7a4d\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CLN8<\/td>\n<td width=\"283\">Neuronal Ceroid Lipofuscinosis,CLN8 Related<\/td>\n<td width=\"253\">\u795e\u7d93\u5143\u881f\u6a23\u8102\u8910\u8cea\u5132\u7a4d\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CLRN1<\/td>\n<td width=\"283\">Usher Syndrome: Type 3A<\/td>\n<td width=\"253\">\u5c24\u585e\u6c0f\u7d9c\u5408\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">COL4A3<\/td>\n<td width=\"283\">Alport Syndrome<\/td>\n<td width=\"253\">\u4e9e\u4f2f\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CPT1A<\/td>\n<td width=\"283\">Carnitine Palmitoyltransferase IA Deficiency<\/td>\n<td width=\"253\">\u8089\u9e7c\u68d5\u6ada\u91af\u57fa\u8f49\u79fb\u9176\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CPT2<\/td>\n<td width=\"283\">Carnitine Palmitoyltransferase II Deficiency<\/td>\n<td width=\"253\">\u8089\u9e7c\u68d5\u6ada\u91af\u57fa\u8f49\u79fb\u9176\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CTNS<\/td>\n<td width=\"283\">Cystinosis<\/td>\n<td width=\"253\">\u80f1\u80fa\u9178\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CTSK<\/td>\n<td width=\"283\">Pycnodysostosis<\/td>\n<td width=\"253\">\u7dfb\u5bc6\u6210\u9aa8\u4e0d\u5168\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CYBB<\/td>\n<td width=\"283\">Chronic Granulomatous Disease, X-linked<\/td>\n<td width=\"253\">X\u6027\u806f\u6162\u6027\u8089\u82bd\u816b\u75c5<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CYP1B1<\/td>\n<td width=\"283\">Primary Congenital Glaucoma<\/td>\n<td width=\"253\">\u539f\u767c\u6027\u5148\u5929\u6027\u9752\u5149\u773c<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">CYP27A1<\/td>\n<td width=\"283\">Cerebrotendinous Xanthomatosis<\/td>\n<td width=\"253\">\u8166\u8171\u6027\u9ec3\u7624\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">DBT<\/td>\n<td width=\"283\">Maple Syrup Urine Disease: Type II<\/td>\n<td width=\"253\">\u6953\u7cd6\u5c3f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">DCLRE1C<\/td>\n<td width=\"283\">Severe Combined Immunodeficiency, Athabascan Type<\/td>\n<td width=\"253\">\u56b4\u91cd\u8907\u5408\u578b\u514d\u75ab\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">DHCR7<\/td>\n<td width=\"283\">Smith-Lemli-Opitz Syndrome<\/td>\n<td width=\"253\">Smith-Lemli-Opitz\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">DHDDS<\/td>\n<td width=\"283\">Retinitis Pigmentosa, Autosomal Recessive<\/td>\n<td width=\"253\">\u7db2\u819c\u8272\u7d20\u8b8a\u6027<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">DLD<\/td>\n<td width=\"283\">Dihydrolipoamide Dehydrogenase Deficiency<\/td>\n<td width=\"253\">\u4e19\u916e\u9178\u9e7d\u812b\u6c2b\u9175\u7d20\u7f3a\u4e4f\u75c7(E3\u7f3a\u4e4f\u75c7)<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">DMD<\/td>\n<td width=\"283\">Duchenne\/Becker Muscular Dystrophy<\/td>\n<td width=\"253\">\u675c\u8208\u6c0f\u808c\u8089\u71df\u990a\u4e0d\u826f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">DOK7<\/td>\n<td width=\"283\">Congenital Myasthenic Syndrome, DOK7 Related<\/td>\n<td width=\"253\">\u5148\u5929\u6027\u91cd\u75c7\u808c\u7121\u529b\u7d9c\u5408\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">DPYD<\/td>\n<td width=\"283\">Dihydropyrimidine Dehydrogenase Deficiency<\/td>\n<td width=\"253\">\u00a0\u4e8c\u6c2b\u5627\u5576\u53bb\u6c2b\u9176\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">EIF2B5<\/td>\n<td width=\"283\">Leukoencephalopathy with Vanishing White Matter, EIF2B5 Related<\/td>\n<td width=\"253\">\u00a0\u8166\u767d\u8cea\u6d88\u5931\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">ETHE1<\/td>\n<td width=\"283\">Ethylmalonic Encephalopathy<\/td>\n<td width=\"253\">\u4e59\u57fa\u4e19\u4e8c\u9178\u8166\u75c5\u8b8a<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">FAH<\/td>\n<td width=\"283\">Tyrosinemia: Type I<\/td>\n<td width=\"253\">\u916a\u80fa\u9178\u8840\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">FANCC<\/td>\n<td width=\"283\">Fanconi Anemia<\/td>\n<td width=\"253\">\u8303\u53ef\u5c3c\u8ca7\u8840<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">FH<\/td>\n<td width=\"283\">Fumarase Hydratase Deficiency<\/td>\n<td width=\"253\">\u5ef6\u80e1\u7d22\u9178\u9176\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">FKTN<\/td>\n<td width=\"283\">Fukuyama Congenital Muscular Dystrophy\/Walker-Warburg Congenital Muscular Dystrophy<\/td>\n<td width=\"253\">\u5148\u5929\u6027\u808c\u5931\u990a\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">FMR1<\/td>\n<td width=\"283\">Fragile-X Syndrome<\/td>\n<td width=\"253\">X\u67d3\u8272\u9ad4\u8106\u6298\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">G6PC<\/td>\n<td width=\"283\">Glycogen Storage Disease: Type IA<\/td>\n<td width=\"253\">\u9f90\u8c9d\u6c0f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">G6PD<\/td>\n<td width=\"283\">Glucose-6-Phosphate Dehydrogenase Deficiency<\/td>\n<td width=\"253\">\u8836\u8c46\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">GAA<\/td>\n<td width=\"283\">Glycogen Storage Disease: Type II\u00a0 (Pompe Disease)<\/td>\n<td width=\"253\">\u9f90\u8c9d\u6c0f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">GALC<\/td>\n<td width=\"283\">Krabbe Disease<\/td>\n<td width=\"253\">\u7403\u7d30\u80de\u8166\u767d\u8cea\u5931\u990a\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">GALT<\/td>\n<td width=\"283\">Galactosemia<\/td>\n<td width=\"253\">\u534a\u4e73\u7cd6\u8840\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">GBA<\/td>\n<td width=\"283\">Gaucher Disease<\/td>\n<td width=\"253\">\u9ad8\u96ea\u6c0f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">GCDH<\/td>\n<td width=\"283\">Glutaric Acidemia I<\/td>\n<td width=\"253\">\u620a\u4e8c\u9178\u8840\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">GJB2<\/td>\n<td width=\"283\">Nonsyndromic Hearing Loss and Deafness: GJB2 Related DFNB1<\/td>\n<td width=\"253\">\u975e\u75c7\u5019\u7fa4\u807d\u969c<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">GJB6<\/td>\n<td width=\"283\">Nonsyndromic Hearing Loss and Deafness: GJB6 Related DFNB1<\/td>\n<td width=\"253\">\u975e\u75c7\u5019\u7fa4\u807d\u969c<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">GLB1<\/td>\n<td width=\"283\">GM1-Gangliosidosis<\/td>\n<td width=\"253\">GM1-\u795e\u7d93\u7bc0\u82f7\u8102\u5132\u7a4d\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">GLDC<\/td>\n<td width=\"283\">Glycine Encephalopathy<\/td>\n<td width=\"253\">\u7518\u80fa\u9178\u8166\u75c5\u8b8a<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">GNE<\/td>\n<td width=\"283\">Inclusion Body Myopathy: Type 2<\/td>\n<td width=\"253\">\u5305\u6db5\u9ad4\u808c\u75c5\u8b8a<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">GNPTAB<\/td>\n<td width=\"283\">Mucolipidosis II<\/td>\n<td width=\"253\">\u9ecf\u8102\u8cea\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">GRHPR<\/td>\n<td width=\"283\">Primary Hyperoxaluria: Type 2<\/td>\n<td width=\"253\">\u539f\u767c\u6027\u9ad8\u8349\u9178\u5c3f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">HADHA<\/td>\n<td width=\"283\">Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency<\/td>\n<td width=\"253\">\u9577\u93c83-\u7fa5\u91af\u8f14\u9176A\u812b\u6c2b\u9176\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">HBA1<\/td>\n<td width=\"283\">Alpha-Thalassemia<\/td>\n<td width=\"253\">\u7532\u578b\u5730\u4e2d\u6d77\u8ca7\u8840<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">HBA2<\/td>\n<td width=\"283\">Alpha-Thalassemia<\/td>\n<td width=\"253\">\u7532\u578b\u5730\u4e2d\u6d77\u8ca7\u8840<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">HBB<\/td>\n<td width=\"283\">Beta-Hemoglobinopathies(Beta-Thalassemia and Sickle Cell Disease)<\/td>\n<td width=\"253\">\u4e59\u578b\u5730\u4e2d\u6d77\u8ca7\u8840\u53ca\u942e\u5200\u578b\u8ca7\u8840<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">HEXA<\/td>\n<td width=\"283\">Tay-Sachs Disease<\/td>\n<td width=\"253\">\u5bb6\u65cf\u6027\u9ed1\u77c7\u7661\u5446\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">HEXB<\/td>\n<td width=\"283\">Sandhoff Disease<\/td>\n<td width=\"253\">\u00a0\u5c71\u5fb7\u970d\u592b\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">HMGCL<\/td>\n<td width=\"283\">3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency<\/td>\n<td width=\"253\">3-\u7fa5\u57fa-3-\u7532\u57fa\u620a\u4e8c\u9178\u5c3f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">HPS3<\/td>\n<td width=\"283\">Hermansky-Pudlak Syndrome:HPS3 Related<\/td>\n<td width=\"253\">\u54c8\u5e03\u4e8c\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">HSD17B4<\/td>\n<td width=\"283\">D-Bifunctional Protein Deficiency<\/td>\n<td width=\"253\">D\u578b\u96d9\u529f\u80fd\u86cb\u767d\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">IDUA<\/td>\n<td width=\"283\">Mucopolysaccharidosis, Type I<\/td>\n<td width=\"253\">\u9ecf\u591a\u91a3\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">IKBKAP<\/td>\n<td width=\"283\">Familial Dysautonomia<\/td>\n<td width=\"253\">\u5bb6\u65cf\u6027\u81ea\u5f8b\u795e\u7d93\u5931\u8abf<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">IL2RG<\/td>\n<td width=\"283\">Severe Combined Immunodeficiency, X-linked<\/td>\n<td width=\"253\">\u56b4\u91cd\u8907\u5408\u578b\u514d\u75ab\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">IVD<\/td>\n<td width=\"283\">Isovaleric Acidemia<\/td>\n<td width=\"253\">\u7570\u620a\u9178\u8840\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">LAMA3<\/td>\n<td width=\"283\">Herlitz Junctional Epidermolysis Bullosa: LAMA3 Related<\/td>\n<td width=\"253\">\u907a\u50b3\u6027\u8868\u76ae\u5206\u89e3\u6027\u6c34\u76b0\u75c7(\u6ce1\u6ce1\u9f8d)<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">LAMB3<\/td>\n<td width=\"283\">Herlitz Junctional Epidermolysis Bullosa: LAMB3 Related<\/td>\n<td width=\"253\">\u907a\u50b3\u6027\u8868\u76ae\u5206\u89e3\u6027\u6c34\u76b0\u75c7(\u6ce1\u6ce1\u9f8d)<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">LAMC2<\/td>\n<td width=\"283\">Herlitz Junctional Epidermolysis Bullosa: LAMC2 Related<\/td>\n<td width=\"253\">\u907a\u50b3\u6027\u8868\u76ae\u5206\u89e3\u6027\u6c34\u76b0\u75c7(\u6ce1\u6ce1\u9f8d)<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">LRPPRC<\/td>\n<td width=\"283\">Leigh Syndrome: French-Canadian Type<\/td>\n<td width=\"253\">\u840a\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">MAN2B1<\/td>\n<td width=\"283\">Alpha-Mannosidosis<\/td>\n<td width=\"253\">\u7518\u9732\u7cd6\u82f7\u75c5<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">MCOLN1<\/td>\n<td width=\"283\">Mucolipidosis IV<\/td>\n<td width=\"253\">\u9ecf\u8102\u8cea\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">MECP2<\/td>\n<td width=\"283\">MECP2 Duplication Syndrome<\/td>\n<td width=\"253\">MECP2\u7d9c\u5408\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">MLC1<\/td>\n<td width=\"283\">Megalencephalic Leukoencephalopathy with Subcortical Cysts, MLC1 Related<\/td>\n<td width=\"253\">\u5de8\u8166\u578b\u767d\u8cea\u8166\u8b8a\u4f75\u76ae\u5c64\u4e0b\u56ca\u816b<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">MMACHC<\/td>\n<td width=\"283\">Methylmalonic Aciduria and Homocystinuria: Type cblC<\/td>\n<td width=\"253\">\u7532\u57fa\u4e19\u4e8c\u9178\u8840\u75c7\u53ca\u9ad8\u80f1\u80fa\u9178\u5c3f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">MPI<\/td>\n<td width=\"283\">Congenital Disorder of Glycosylation: Type 1B: MPI Related<\/td>\n<td width=\"253\">\u5148\u5929\u6027\u7cd6\u57fa\u5316\u969c\u7919<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">MPL<\/td>\n<td width=\"283\">Congenital Amegakaryocytic Thrombocytopenia<\/td>\n<td width=\"253\">\u5148\u5929\u6027\u5de8\u6838\u7d30\u80de\u7f3a\u4e4f\u8840\u5c0f\u677f\u4f4e\u4e0b\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">MTTP<\/td>\n<td width=\"283\">Abetalipoproteinaemia<\/td>\n<td width=\"253\">\u8840\u6e05\u03b2\u8102\u86cb\u767d\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">MYO7A<\/td>\n<td width=\"283\">Usher Syndrome: Type 1B<\/td>\n<td width=\"253\">\u5c24\u585e\u6c0f\u7d9c\u5408\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">NBN<\/td>\n<td width=\"283\">Nijmegen Breakage Syndrome<\/td>\n<td width=\"253\">\u5948\u6885\u4ea8\u7834\u640d\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">NEB<\/td>\n<td width=\"283\">Nemaline Myopathy: NEB Related<\/td>\n<td width=\"253\">\u7dda\u72c0\u9ad4\u808c\u8089\u75c5\u8b8a<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">NPC1<\/td>\n<td width=\"283\">Niemann-Pick Disease, Type C<\/td>\n<td width=\"253\">\u9798\u9ad3\u78f7\u8102\u5132\u7a4d\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">NPHP1<\/td>\n<td width=\"283\">Juvenile Nephronopthisis<\/td>\n<td width=\"253\">\u5e7c\u5e74\u6027\u814e\u6d88\u8017\u75c5<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">NPHS1<\/td>\n<td width=\"283\">Nephrotic Syndrome: Type 1<\/td>\n<td width=\"253\">\u814e\u75c5\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">NPHS2<\/td>\n<td width=\"283\">Nephrotic Syndrome: Type 2<\/td>\n<td width=\"253\">\u814e\u75c5\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">OCRL<\/td>\n<td width=\"283\">Lowe Syndrome<\/td>\n<td width=\"253\">Lowe\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">OTC<\/td>\n<td width=\"283\">Ornithine Transcarbamylase Deficiency<\/td>\n<td width=\"253\">\u9ce5\u80fa\u9178\u6c28\u7532\u91af\u57fa\u8f49\u79fb\u9176\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PAH<\/td>\n<td width=\"283\">Phenylalanine Hydroxylase Deficiency<\/td>\n<td width=\"253\">\u82ef\u4e19\u80fa\u9178\u7fa5\u5316\u9176\u7f3a\u4e4f\u75c7(\u82ef\u916e\u5c3f\u75c7)<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PC<\/td>\n<td width=\"283\">Pyruvate Carboxylase Deficiency<\/td>\n<td width=\"253\">\u4e19\u916e\u9178\u7fa7\u5316\u9176\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PCCA<\/td>\n<td width=\"283\">Propionic Acidemia, PCCA Related<\/td>\n<td width=\"253\">\u4e19\u9178\u8840\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PCCB<\/td>\n<td width=\"283\">Propionic Acidemia, PCCB Related<\/td>\n<td width=\"253\">\u4e19\u9178\u8840\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PCDH15<\/td>\n<td width=\"283\">Usher Syndrome: Type 1F<\/td>\n<td width=\"253\">\u5c24\u585e\u6c0f\u7d9c\u5408\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PEX1<\/td>\n<td width=\"283\">Zellweger Spectrum Disorders:PEX1 Related<\/td>\n<td width=\"253\">Zellweger\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PEX2<\/td>\n<td width=\"283\">Zellweger Spectrum Disorders:PEX2 Related<\/td>\n<td width=\"253\">Zellweger\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PEX7<\/td>\n<td width=\"283\">Rhizomelic Chondrodysplasia Punctata: Type I<\/td>\n<td width=\"253\">\u80a2\u8fd1\u7aef\u578b\u9ede\u72c0\u8edf\u9aa8\u767c\u80b2\u4e0d\u826f<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PHGDH<\/td>\n<td width=\"283\">3-Phosphoglycerate Dehydrogenase Deficiency<\/td>\n<td width=\"253\">\u78f7\u9178\u7518\u6cb9\u9178\u812b\u6c2b\u9176\u7f3a\u4e4f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PKHD1<\/td>\n<td width=\"283\">Autosomal Recessive Polycystic Kidney Disease<\/td>\n<td width=\"253\">\u81ea\u9ad4\u96b1\u6027\u907a\u50b3\u591a\u56ca\u6027\u814e\u75be\u75c5<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PLA2G6<\/td>\n<td width=\"283\">Infantile Neuroaxonal Dystrophy 1<\/td>\n<td width=\"253\">\u5b30\u5152\u795e\u7d93\u8ef8\u7d22\u71df\u990a\u4e0d\u826f<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PMM2<\/td>\n<td width=\"283\">Congenital Disorder of Glycosylation: Type 1A: PMM2 Related<\/td>\n<td width=\"253\">\u5148\u5929\u6027\u7cd6\u57fa\u5316\u969c\u7919<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">POLG<\/td>\n<td width=\"283\">POLG-Related Disorders<\/td>\n<td width=\"253\">POLG\u76f8\u95dc\u7c92\u7dda\u9ad4DNA\u8907\u88fd\u9176\u7f3a\u9677\u76f8\u95dc\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">POMGNT1<\/td>\n<td width=\"283\">Muscle-Eye-Brain Disease<\/td>\n<td width=\"253\">\u808c\u8089- \u8166\u90e8\u75be\u75c5<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PPT1<\/td>\n<td width=\"283\">Neuronal Ceroid Lipofuscinosis,PPT1 Related<\/td>\n<td width=\"253\">\u795e\u7d93\u5143\u881f\u6a23\u8102\u8910\u8cea\u5132\u7a4d\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PROP1<\/td>\n<td width=\"283\">PROP1-Related Combined Pituitary Hormone Deficiency<\/td>\n<td width=\"253\">PROP1\u76f8\u95dc\u578b\u5408\u4f75\u8166\u4e0b\u5782\u9ad4\u6fc0\u7d20\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">PTS<\/td>\n<td width=\"283\">BH4-Deficient Hyperphenylalaninemia A<\/td>\n<td width=\"253\">BH4\u7f3a\u4e4f\u5c0e\u81f4\u4e4b\u9ad8\u82ef\u4e19\u80fa\u9178\u8840\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">RAPSN<\/td>\n<td width=\"283\">Congenital Myasthenic Syndrome,RAPSN Related<\/td>\n<td width=\"253\">\u5148\u5929\u6027\u91cd\u75c7\u808c\u7121\u529b\u7d9c\u5408\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">RMRP<\/td>\n<td width=\"283\">Cartilage-Hair Hypoplasia<\/td>\n<td width=\"253\">\u8edf\u9aa8\u6bdb\u9aee\u767c\u80b2\u4e0d\u5168<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">RTEL1<\/td>\n<td width=\"283\">Dyskeratosis Congenita<\/td>\n<td width=\"253\">\u5148\u5929\u6027\u89d2\u5316\u4e0d\u826f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SACS<\/td>\n<td width=\"283\">Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay<\/td>\n<td width=\"253\">\u67e5\u723e\u74e6\u514b\u65af-\u85a9\u683c\u5948\u75d9\u6523\u6027\u5171\u6fdf\u5931\u8abf<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SERPINA1<\/td>\n<td width=\"283\">Alpha-1-Antitrypsin Deficiency<\/td>\n<td width=\"253\">\u03b11-\u6297\u80f0\u86cb\u767d\u9176\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SGCA<\/td>\n<td width=\"283\">Limb-Girdle Muscular Dystrophy, Type 2D<\/td>\n<td width=\"253\">\u80a2\u5e36\u578b\u808c\u8089\u5931\u990a\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SGCB<\/td>\n<td width=\"283\">Limb-Girdle Muscular Dystrophy, Type 2E<\/td>\n<td width=\"253\">\u80a2\u5e36\u578b\u808c\u8089\u5931\u990a\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SGCG<\/td>\n<td width=\"283\">Limb-Girdle Muscular Dystrophy, Type 2C<\/td>\n<td width=\"253\">\u80a2\u5e36\u578b\u808c\u8089\u5931\u990a\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SGSH<\/td>\n<td width=\"283\">Mucopolysaccharidosis, Type IIIA (Sanfilippo Syndrome A)<\/td>\n<td width=\"253\">\u9ecf\u591a\u91a3\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SLC12A6<\/td>\n<td width=\"283\">Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum<\/td>\n<td width=\"253\">\u907a\u50b3\u6027\u904b\u52d5\u53ca\u611f\u89ba\u795e\u7d93\u75c5\u8b8a\u5408\u4f75\u80fc\u80dd\u9ad4\u767c\u80b2\u4e0d\u5168<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SLC17A5<\/td>\n<td width=\"283\">Salla Disease<\/td>\n<td width=\"253\">\u553e\u6db2\u9178\u8caf\u7a4d\u75c5<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SLC22A5<\/td>\n<td width=\"283\">Carnitine Deficiency,Systemic Primary<\/td>\n<td width=\"253\">\u8102\u80aa\u9178\u6c27\u5316\u7570\u5e38\u75be\u75c5<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SLC25A13<\/td>\n<td width=\"283\">Citrin Deficiency<\/td>\n<td width=\"253\">Citrin\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SLC25A15<\/td>\n<td width=\"283\">Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome<\/td>\n<td width=\"253\">\u9ad8\u9ce5\u80fa\u9178\u8840\u75c7-\u9ad8\u6c28\u8840\u75c7-\u9ad8\u74dc\u80fa\u9178\u8840\u75c7\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SLC26A2<\/td>\n<td width=\"283\">Atelosteogenesis Type 2<\/td>\n<td width=\"253\">\u9aa8\u767c\u80b2\u4e0d\u5168\u75c7\u7b2c2\u578b<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SLC26A4<\/td>\n<td width=\"283\">Pendred Syndrome<\/td>\n<td width=\"253\">Pendred \u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SLC35A3<\/td>\n<td width=\"283\">Arthrogryposis, Mental Retardataion and Seizures<\/td>\n<td width=\"253\">\u5148\u5929\u6027\u591a\u767c\u6027\u95dc\u7bc0\u6523\u7e2e\u75c7,\u667a\u80fd\u969c\u7919\u53ca\u7672\u7647<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SLC37A4<\/td>\n<td width=\"283\">Glycogen Storage Disease: Type IB<\/td>\n<td width=\"253\">\u809d\u91a3\u5132\u7a4d\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SLC7A7<\/td>\n<td width=\"283\">Lysinuric Protein Intolerance<\/td>\n<td width=\"253\">\u8cf4\u6c28\u9178\u5c3f\u6027\u86cb\u767d\u4e0d\u8010\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SMN1<\/td>\n<td width=\"283\">Spinal Muscular Atrophy<\/td>\n<td width=\"253\">\u810a\u9ad3\u6027\u808c\u8089\u840e\u7e2e\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SMPD1<\/td>\n<td width=\"283\">Niemann-Pick Disease, Type A<\/td>\n<td width=\"253\">\u5c3c\u66fc\u5339\u514b\u75c7(\u9798\u9ad3\u78f7\u8102\u5132\u7a4d\u75c7)<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">SUMF1<\/td>\n<td width=\"283\">Multiple Sulphatase Deficiency<\/td>\n<td width=\"253\">\u591a\u767c\u6027\u786b\u9178\u8102\u9176\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">TGM1<\/td>\n<td width=\"283\">Autosomal Recessive Congenital Ichthyosis, TGM1 Related<\/td>\n<td width=\"253\">\u5148\u5929\u6027\u96b1\u6027\u9b5a\u9c57\u766c<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">TH<\/td>\n<td width=\"283\">Tyrosine Hydroxylase Deficiency<\/td>\n<td width=\"253\">\u916a\u6c28\u9178\u7fa5\u5316\u9176\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">TMEM216<\/td>\n<td width=\"283\">Joubert Syndrome, TMEM216 Related<\/td>\n<td width=\"253\">Joubert\u6c0f\u75c7\u5019\u7fa4(\u5bb6\u65cf\u6027\u5c0f\u8166\u8693\u90e8\u767c\u80b2\u4e0d\u5168)<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">TPP1<\/td>\n<td width=\"283\">Neuronal Ceroid Lipofuscinosis,TPP1 Related<\/td>\n<td width=\"253\">\u795e\u7d93\u5143\u881f\u6a23\u8102\u8910\u8cea\u5132\u7a4d\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">TTPA<\/td>\n<td width=\"283\">Ataxia with Vitamin E Deficiency<\/td>\n<td width=\"253\">\u5171\u6fdf\u5931\u8abf\u4f75\u7dad\u4ed6\u547dE\u7f3a\u4e4f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">UBE3A<\/td>\n<td width=\"283\">Angelman Syndrome<\/td>\n<td width=\"253\">\u5929\u4f7f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">UGT1A1<\/td>\n<td width=\"283\">Crigler-Najjar Syndrome<\/td>\n<td width=\"253\">\u514b\u679c\u7d0d\u5091\u6c0f\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">USH1C<\/td>\n<td width=\"283\">Usher Syndrome: Type 1C<\/td>\n<td width=\"253\">\u5c24\u585e\u6c0f\u7d9c\u5408\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">USH2A<\/td>\n<td width=\"283\">Usher Syndrome: Type 2A<\/td>\n<td width=\"253\">\u5c24\u585e\u6c0f\u7d9c\u5408\u75c7<\/td>\n<\/tr>\n<tr>\n<td width=\"87\">WAS<\/td>\n<td width=\"283\">Wiskott-Aldrich Syndrome<\/td>\n<td width=\"253\">Wiskott-Aldrich\u6c0f\u75c7\u5019\u7fa4<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>\n<div class=\"fusion-clearfix\"><\/div><\/div><\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-2 fusion-parallax-fixed nonhundred-percent-fullwidth non-hundred-percent-height-scrolling fusion-equal-height-columns\" style=\"background-color: rgba(255,255,255,0);background-image: url(&quot;https:\/\/geneusmtc.com\/wp-content\/uploads\/2015\/12\/make-an-appointment.jpg&quot;);background-position: center center;background-repeat: no-repeat;padding-top:110px;padding-right:0px;padding-bottom:100px;padding-left:0px;margin-bottom: 0px;margin-top: 0px;border-width: 0px 0px 0px 0px;border-color:#eae9e9;border-style:solid;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;background-attachment:fixed;\" ><div class=\"fusion-builder-row fusion-row\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-1 fusion_builder_column_3_5 3_5 fusion-three-fifth fusion-column-first\" style=\"width:58.4%; margin-right: 4%;margin-top:0px;margin-bottom:30px;\"><div class=\"fusion-column-wrapper fusion-flex-column-wrapper-legacy\" style=\"background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;padding: 0px 0px 0px 0px;\"><div class=\"fusion-text fusion-text-3\"><h2 class=\"fusion-responsive-typography-calculated\" data-fontsize=\"48\" data-lineheight=\"60px\" data-fusion-font=\"true\"><span style=\"color: #ffffff;\">\u806f\u7d61\u6676\u6e96<\/span><\/h2>\n<\/div><div class=\"fusion-text fusion-text-4\"><p><span style=\"color: #ffffff;\" data-fusion-font=\"true\">\u5c0d\u65bc\u6211\u5011\u7684\u7522\u54c1\u8cc7\u8a0a\u9084\u6709\u7591\u60d1\u55ce\uff1f<\/span><\/p>\n<p><span style=\"color: #ffffff;\" data-fusion-font=\"true\">\u6b61\u8fce\u8a62\u554f\u6211\u5011\u5c08\u696d\u7684\u91ab\u5b78\u5ba2\u670d\u5c08\u54e1\uff0c\u6211\u5011\u6703\u76e1\u5feb\u8207\u60a8\u806f\u7d61\u3002<\/span><\/p>\n<\/div><div class=\"fusion-clearfix\"><\/div><\/div><\/div><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-2 fusion_builder_column_2_5 2_5 fusion-two-fifth fusion-column-last\" style=\"width:37.6%;margin-top:0px;margin-bottom:30px;\"><div class=\"fusion-column-wrapper fusion-flex-column-wrapper-legacy\" style=\"background-position:left top;background-repeat:no-repeat;-webkit-background-size:cover;-moz-background-size:cover;-o-background-size:cover;background-size:cover;padding: 0px 0px 0px 0px;\"><div class=\"fusion-column-content-centered\"><div class=\"fusion-column-content\"><div class=\"fusion-align-block\"><style type=\"text\/css\">.fusion-button.button-1 {border-radius:2px;}<\/style><a class=\"fusion-button button-flat button-xlarge button-default button-1 fusion-button-default-span fusion-button-default-type\" target=\"_self\" href=\"https:\/\/geneusmtc.com\/make-appointment\/\"><span class=\"fusion-button-text\">CONTACT<\/span><\/a><\/div><\/div><\/div><div class=\"fusion-clearfix\"><\/div><\/div><\/div><\/div><\/div><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"parent":2441,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"100-width.php","meta":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v18.3 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>- \u6676\u6e96\u91ab\u5b78\u79d1\u6280<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/geneusmtc.com\/service\/\u5b55\u524d\u5148\u77e5\u6aa2\u6e2c\u5957\u4ef6\/\" \/>\n<meta property=\"og:locale\" content=\"zh_TW\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"- \u6676\u6e96\u91ab\u5b78\u79d1\u6280\" \/>\n<meta property=\"og:url\" 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