{"id":877,"date":"2017-01-14T23:59:58","date_gmt":"2017-01-14T20:29:58","guid":{"rendered":"http:\/\/ebnsinagenelab.com\/?page_id=877"},"modified":"2017-01-15T00:06:51","modified_gmt":"2017-01-14T20:36:51","slug":"%d8%a8%db%8c%d9%85%d8%a7%d8%b1%db%8c%d9%87%d8%a7%db%8c-%d9%85%db%8c%d8%aa%d9%88%da%a9%d9%86%d8%af%d8%b1%db%8c","status":"publish","type":"page","link":"https:\/\/ebnsinagenelab.com\/?page_id=877","title":{"rendered":"\u0628\u06cc\u0645\u0627\u0631\u06cc\u0647\u0627\u06cc \u0645\u06cc\u062a\u0648\u06a9\u0646\u062f\u0631\u06cc"},"content":{"rendered":"

\u0628\u06cc\u0645\u0627\u0631\u06cc\u0647\u0627\u06cc \u0645\u06cc\u062a\u0648\u06a9\u0646\u062f\u0631\u06cc<\/span><\/p>\n

( Mitochondrial Diseases )<\/span><\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
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\u06a9\u062f \u0622\u0632\u0645\u0627\u06cc\u0634<\/strong><\/p>\n<\/td>\n

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\u0639\u0646\u0648\u0627\u0646<\/strong><\/p>\n<\/td>\n

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\u062a\u0634\u062e\u06cc\u0635 \u0628\u06cc\u0645\u0627\u0631\u06cc<\/strong><\/p>\n<\/td>\n

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\u0646\u0627\u0645 \u0698\u0646(\u0647\u0627<\/strong>)<\/strong><\/p>\n<\/td>\n

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\u0646\u0645\u0648\u0646\u0647 \u0645\u0648\u0631\u062f \u0646\u06cc\u0627\u0632 <\/strong><\/p>\n<\/td>\n

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\u0631\u0648\u0634 \u0622\u0646\u0627\u0644\u06cc\u0632 <\/strong><\/p>\n<\/td>\n

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\u0645\u062f\u062a \u0622\u0646\u0627\u0644\u06cc\u0632 <\/strong><\/p>\n<\/td>\n<\/tr>\n

DX0993<\/td>\nGenetic testing for Mitochondrial
\nDiseases<\/td>\n		\n

Genetic testing for Mitochondrial
\nDiseases<\/p>\n<\/td>\n

Including all genes in this system (244 genes<\/em>
\n+ MT<\/em>\u2010<\/em>DLOOP region)<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0994<\/td>\nWhole Mitochondrial Genome
\nSequencing<\/td>\n		Whole Mitochondrial Genome
\nSequencing<\/td>\n		\u06f3\u06f7 genes + MT<\/em>\u2010<\/em>DLOOP region: MT<\/em>\u2010<\/em>ATP6,<\/em>
\nMT<\/em>\u2010<\/em>ATP8, MT<\/em>\u2010<\/em>CO1, MT<\/em>\u2010<\/em>CO2, MT<\/em>\u2010<\/em>CO3, MT<\/em>\u2010<\/em>
\nCYB, MT<\/em>\u2010<\/em>ND1, MT<\/em>\u2010<\/em>ND2, MT<\/em>\u2010<\/em>ND3, MT<\/em>\u2010<\/em>ND4,<\/em>
\nMT<\/em>\u2010<\/em>ND4L, MT<\/em>\u2010<\/em>ND5, MT<\/em>\u2010<\/em>ND6, MT<\/em>\u2010<\/em>RNR1, MT<\/em>\u2010<\/em>
\nRNR2, MT<\/em>\u2010<\/em>TA, MT<\/em>\u2010<\/em>TC, MT<\/em>\u2010<\/em>TD, MT<\/em>\u2010<\/em>TE, MT<\/em>\u2010<\/em>
\nTF, MT<\/em>\u2010<\/em>TG, MT<\/em>\u2010<\/em>TH, MT<\/em>\u2010<\/em>TI, MT<\/em>\u2010<\/em>TK, MT<\/em>\u2010<\/em>TL1,<\/em>
\nMT<\/em>\u2010<\/em>TL2, MT<\/em>\u2010<\/em>TM, MT<\/em>\u2010<\/em>TN, MT<\/em>\u2010<\/em>TP, MT<\/em>\u2010<\/em>TQ,<\/em>
\nMT<\/em>\u2010<\/em>TR, MT<\/em>\u2010<\/em>TS1, MT<\/em>\u2010<\/em>TS2, MT<\/em>\u2010<\/em>TT, MT<\/em>\u2010<\/em>TV,<\/em>
\nMT<\/em>\u2010<\/em>TW, MT<\/em>\u2010<\/em>TY, MT<\/em>\u2010<\/em>DLOOP<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0995<\/td>\nGenetic testing for Mitochondrial\u2010
\nassociated Nervous System Disease<\/td>\n		Genetic testing for Mitochondrial\u2010
\nassociated Nervous System Disease<\/td>\n		\u06f1\u06f4\u06f5 genes: Including genes in DX0931, and<\/em>
\nfrom code DX0996 to DX1019<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0996<\/td>\nLeigh Syndrome<\/td>\nLeigh Syndrome<\/td>\n\u06f6\u06f1 genes: MT<\/em>\u2010<\/em>TV, MT<\/em>\u2010<\/em>TL1, MT<\/em>\u2010<\/em>ND1, MT<\/em>\u2010<\/em>
\nND2, MT<\/em>\u2010<\/em>TW, MT<\/em>\u2010<\/em>TK, MT<\/em>\u2010<\/em>ATP6, MT<\/em>\u2010<\/em>CO3,<\/em>
\nMT<\/em>\u2010<\/em>ND3, MT<\/em>\u2010<\/em>ND4, MT<\/em>\u2010<\/em>TL2, MT<\/em>\u2010<\/em>ND5, MT<\/em>\u2010<\/em>
\nND6, BCS1L, C8ORF38, SCO1, SCO2, COX10,<\/em>
\nCOX15, DLAT, DLD, FOXRED1, LRPPRC,<\/em>
\nNDUFA2, NDUFA9, NDUFA10, NDUFA12,<\/em>
\nNDUFAF2, NDUFAF4, NDUFAF5, NDUFS1,<\/em>
\nNDUFS2, NDUFS3, NDUFS4, NDUFS6,<\/em>
\nNDUFS7, NDUFS8, NDUFV1, PC, PDHB,<\/em>
\nPDHX, PDP1, PDSS1, PDSS2, SDHA, SDHAF1,<\/em>
\nSURF1, TACO1, GFM1, SUCLA2, ADCK3,<\/em>
\nAPTX, COQ2, COQ9, ETFDH, TTC19, TUFM,<\/em>
\nGFER, SLC19A3, NDUFA1, PDHA1, AIFM1<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0997<\/td>\nNeurogenic muscle weakness ataxia
\nand retinitis pigmentosa<\/td>\n		Neurogenic muscle weakness ataxia
\nand retinitis pigmentosa<\/td>\n		\u06f5 genes: MT<\/em>\u2010<\/em>ND1, MT<\/em>\u2010<\/em>ATP6, MT<\/em>\u2010<\/em>ND3, MT<\/em>\u2010<\/em>
\nND4, MT<\/em>\u2010<\/em>ND5<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0998<\/td>\nFamilial Bilateral Striatal Necrosis<\/td>\nFamilial Bilateral Striatal Necrosis<\/td>\nMT<\/em>\u2010<\/em>ATP6, NUP62<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0999<\/td>\nProgressive Encephalopathy<\/td>\nProgressive Encephalopathy<\/td>\n\u06f1\u06f5 genes: MT<\/em>\u2010<\/em>CO3, MT<\/em>\u2010<\/em>TL1, MT<\/em>\u2010<\/em>TS1, MT<\/em>\u2010<\/em>
\nTG, DNM1L, DARS2, ETHE1, GFM1, MECP2,<\/em>
\nNDUFAF2, COX10, ATPAF2, AMT, GCSH,<\/em>
\nGLDC<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1000<\/td>\nMitochondrial encephamyopathy,
\nlactic acidosis, and stroke\u2010like
\nsymptom<\/td>\n		Mitochondrial encephamyopathy,
\nlactic acidosis, and stroke\u2010like
\nsymptom<\/td>\n		\u06f1\u06f6 genes: MT<\/em>\u2010<\/em>TF, MT<\/em>\u2010<\/em>TV, MT<\/em>\u2010<\/em>RNR2, MT<\/em>\u2010<\/em>
\nTL1, MT<\/em>\u2010<\/em>ND1, MT<\/em>\u2010<\/em>TQ, MT<\/em>\u2010<\/em>TS1, MT<\/em>\u2010<\/em>TK, MT<\/em>\u2010<\/em>
\nCO3, MT<\/em>\u2010<\/em>ND4, MT<\/em>\u2010<\/em>TH, MT<\/em>\u2010<\/em>TL2, MT<\/em>\u2010<\/em>ND5,<\/em>
\nMT<\/em>\u2010<\/em>ND6, MT<\/em>\u2010<\/em>TE, MT<\/em>\u2010<\/em>CYB<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1001<\/td>\nMyoclonic epilepsy and ragged\u2010red
\nfiber disease<\/td>\n		Myoclonic epilepsy and ragged\u2010red
\nfiber disease<\/td>\n		\u06f6 genes: MT<\/em>\u2010<\/em>TF, MT<\/em>\u2010<\/em>TL1, MT<\/em>\u2010<\/em>TS1, MT<\/em>\u2010<\/em>TK,<\/em>
\nMT<\/em>\u2010<\/em>TH, MT<\/em>\u2010<\/em>TT<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1002<\/td>\nMyoclonic epilepsy myopathy sensory
\nataxia<\/td>\n		Myoclonic epilepsy myopathy sensory
\nataxia<\/td>\n		POLG<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1003<\/td>\nMyoclonic Epilepsy and Psychomotor
\nRegression<\/td>\n		Myoclonic Epilepsy and Psychomotor
\nRegression<\/td>\n		MT<\/em>\u2010<\/em>TD<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1004<\/td>\nSpastic Paraplegia 7 genes: MT<\/em>\u2010<\/em>TI, MT<\/em>\u2010<\/em>ATP6, SPG7, HSPD1,<\/em>
\nSPAST, KIF5A, C12ORF65<\/em><\/td>\n		Spastic Paraplegia<\/td>\n\u06f7 genes: MT<\/em>\u2010<\/em>TI, MT<\/em>\u2010<\/em>ATP6, SPG7, HSPD1,<\/em>
\nSPAST, KIF5A, C12ORF65<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1005<\/td>\nMitochondrial Myopathy<\/td>\nMitochondrial Myopathy<\/td>\n\u06f2\u06f8 genes: MT<\/em>\u2010<\/em>TF, MT<\/em>\u2010<\/em>RNR2, MT<\/em>\u2010<\/em>TL1, MT<\/em>\u2010<\/em>TI,<\/em>
\nMT<\/em>\u2010<\/em>TQ, MT<\/em>\u2010<\/em>TM, MT<\/em>\u2010<\/em>TW, MT<\/em>\u2010<\/em>TA, MT<\/em>\u2010<\/em>TN,<\/em>
\nMT<\/em>\u2010<\/em>TC, MT<\/em>\u2010<\/em>CO1, MT<\/em>\u2010<\/em>TS1, MT<\/em>\u2010<\/em>TD, MT<\/em>\u2010<\/em>CO2,<\/em>
\nMT<\/em>\u2010<\/em>TK, MT<\/em>\u2010<\/em>CO3, MT<\/em>\u2010<\/em>TG, MT<\/em>\u2010<\/em>TR, MT<\/em>\u2010<\/em>TS2,<\/em>
\nMT<\/em>\u2010<\/em>TL2, MT<\/em>\u2010<\/em>ND5, MT<\/em>\u2010<\/em>TE, MT<\/em>\u2010<\/em>CYB, MT<\/em>\u2010<\/em>TT,<\/em>
\nMT<\/em>\u2010<\/em>TP, ISCU, PUS1, GFER<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1006<\/td>\nInfantile Myopathy and Lactic Acidosis<\/td>\nInfantile Myopathy and Lactic Acidosis<\/td>\nMT<\/em>\u2010<\/em>TT, YARS2<\/em><\/p>\n

\u00a0<\/em><\/p>\n

\u00a0<\/em><\/td>\n

\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1007<\/td>\nReversible Cytochrome Oxidase
\nDeficiency myopathy<\/td>\n		Reversible Cytochrome Oxidase
\nDeficiency myopathy<\/td>\n		MT<\/em>\u2010<\/em>TE<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1008<\/td>\nInfantile Spinal Muscular Atrophy<\/td>\nInfantile Spinal Muscular Atrophy<\/td>\nUBA1, IGHMBP2<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1009<\/td>\nDementia and Chorea<\/td>\nDementia and Chorea<\/td>\nMT<\/em>\u2010<\/em>TW<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1010<\/td>\nLeber Hereditary Optic Neuropathy<\/td>\nLeber Hereditary Optic Neuropathy<\/td>\n\u06f1\u06f5 genes: MT<\/em>\u2010<\/em>TL1, MT<\/em>\u2010<\/em>ND1, MT<\/em>\u2010<\/em>TQ, MT<\/em>\u2010<\/em>
\nND2, MT<\/em>\u2010<\/em>CO1, MT<\/em>\u2010<\/em>CO2, MT<\/em>\u2010<\/em>ATP6, MT<\/em>\u2010<\/em>CO3,<\/em>
\nMT<\/em>\u2010<\/em>ND3, MT<\/em>\u2010<\/em>ND4L, MT<\/em>\u2010<\/em>ND4, MT<\/em>\u2010<\/em>ND5, MT<\/em>\u2010<\/em>
\nND6, MT<\/em>\u2010<\/em>TE, MT<\/em>\u2010<\/em>CYB<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1011<\/td>\nProgressive External
\nOphthalmoplegia<\/td>\n		Progressive External
\nOphthalmoplegia<\/td>\n		\u06f1\u06f9 genes: MT<\/em>\u2010<\/em>TF, MT<\/em>\u2010<\/em>TL1, MT<\/em>\u2010<\/em>ND1, MT<\/em>\u2010<\/em>TI,<\/em>
\nMT<\/em>\u2010<\/em>TA, MT<\/em>\u2010<\/em>TN, MT<\/em>\u2010<\/em>TS1, MT<\/em>\u2010<\/em>TK, MT<\/em>\u2010<\/em>ND4,<\/em>
\nMT<\/em>\u2010<\/em>TS2, MT<\/em>\u2010<\/em>TL2, MT<\/em>\u2010<\/em>ND5, MT<\/em>\u2010<\/em>TE,<\/em>
\nC10ORF2, POLG, POLG2, RRM2B, SLC25A4,<\/em>
\nOPA1<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1012<\/td>\nMitochondrial Optic Atrophy<\/td>\nMitochondrial Optic Atrophy<\/td>\n\u06f6 genes: MT<\/em>\u2010<\/em>ND3, OPA1, OPA3, SDHA,<\/em>
\nDNM1L, TMEM126A<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1013<\/td>\nNonarteritic Anterior Ischemic Optic
\nNeuropathy<\/td>\n		Nonarteritic Anterior Ischemic Optic
\nNeuropathy<\/td>\n		MT<\/em>\u2010<\/em>CO3<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1014<\/td>\nSensory Ataxia Neuropathy Dysarthria
\nand Ophthalmoplegia<\/td>\n		Sensory Ataxia Neuropathy Dysarthria
\nand Ophthalmoplegia<\/td>\n		POLG, C10ORF2<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1015<\/td>\nAtaxia, Myoclonus and Deafness<\/td>\nAtaxia, Myoclonus and Deafness<\/td>\nMT<\/em>\u2010<\/em>TV, MT<\/em>\u2010<\/em>TS1<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1016<\/td>\nAminoglycose\u2010induced nonsyndromic
\ndeafness<\/td>\n		Aminoglycose\u2010induced nonsyndromic
\ndeafness<\/td>\n		\u06f1\u06f2 genes: MT<\/em>\u2010<\/em>TF, MT<\/em>\u2010<\/em>RNR1, MT<\/em>\u2010<\/em>TW, MT<\/em>\u2010<\/em>
\nCO1, MT<\/em>\u2010<\/em>TS1, MT<\/em>\u2010<\/em>CO2, MT<\/em>\u2010<\/em>TK, MT<\/em>\u2010<\/em>ND4,<\/em>
\nMT<\/em>\u2010<\/em>TH, MT<\/em>\u2010<\/em>TS2, MT<\/em>\u2010<\/em>TE, MT<\/em>\u2010<\/em>CYB<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1017<\/td>\nNonsyndromic Hearing Loss<\/td>\nNonsyndromic Hearing Loss<\/td>\n\u06f2\u06f9 genes: MT<\/em>\u2010<\/em>CO1, WFS1, CDH23, KCNQ4,<\/em>
\nGJB3, GJB2, GJB6, DFNA5, TECTA, COCH,<\/em>
\nEYA4, MYO7A, COL11A2, ACTG1, MYO6,<\/em>
\nTMC1, MYO1A, MYO15A, SLC26A4, TMIE,<\/em>
\nTMPRSS3, OTOF, USH1C, PCDH15, TRIOBP,<\/em>
\nCLDN14, DFNB31, ESPN, LHFPL5<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1018<\/td>\nSensorineural Hearing Loss<\/td>\nSensorineural Hearing Loss<\/td>\n\u06f1\u06f4 genes: MT<\/em>\u2010<\/em>TF, MT<\/em>\u2010<\/em>RNR1, MT<\/em>\u2010<\/em>TL1, MT<\/em>\u2010<\/em>
\nND1, MT<\/em>\u2010<\/em>TC, MT<\/em>\u2010<\/em>CO1, MT<\/em>\u2010<\/em>TS1, MT<\/em>\u2010<\/em>CO2,<\/em>
\nMT<\/em>\u2010<\/em>TK, MT<\/em>\u2010<\/em>TS2, MT<\/em>\u2010<\/em>ND6, MT<\/em>\u2010<\/em>CYB,<\/em>
\nTIMM8A, GFER<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1019<\/td>\nHereditary Paraganglioma\u2010
\nPheochromocytoma Syndromes<\/td>\n		Hereditary Paraganglioma\u2010
\nPheochromocytoma Syndromes<\/td>\n		\u06f5 genes: SDHA, SDHB, SDHC, SDHD, SDHAF2<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0931<\/td>\nWolfram Syndrome<\/td>\nWolfram Syndrome<\/td>\nWFS1, CISD2<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1020<\/td>\nGenetic testing for Mitochondrial\u2010
\nassociated Metabolic Disease<\/td>\n		Genetic testing for Mitochondrial\u2010
\nassociated Metabolic Disease<\/td>\n		Including 117 genes from DX0894 to<\/em>
\nDX0902, DX1021 to DX1030, and DX1031 to<\/em>
\nDX1033<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1021<\/td>\nGlycogen Storage
\nDisease(Mitochondrial Diseases)<\/td>\n		Glycogen Storage
\nDisease(Mitochondrial Diseases)<\/td>\n		\u06f1\u06f5 genes: G6PC, GYS1, GYS2, AGL, GAA,<\/em>
\nGBE1, PFKM, PGAM2, PGM1, PHKA1,<\/em>
\nPHKA2, PHKB, PYGL, LDHA, PYGM<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1022<\/td>\nMethylmalonic Aciduria<\/p>\n

 <\/td>\n

Methylmalonic Aciduria<\/td>\n\u06f8 genes: SUCLA2, SUCLG1, MMAA, MMAB,<\/em>
\nMMACHC, MUT, MCEE, MMADHC<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1023<\/td>\nEthylmalonic Aciduria<\/td>\nEthylmalonic Aciduria<\/td>\nETHE1<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1024<\/td>\n\u06f3\u2010Methylglutaconic Aciduria<\/td>\n\u06f3\u2010Methylglutaconic Aciduria<\/td>\nAUH, DNAJC19, OPA3, TAZ<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1025<\/td>\nGlutaric Aciduria<\/td>\nGlutaric Aciduria<\/td>\n\u06f5 genes:ETFA, ETFB, ETFDH, GCDH,<\/em>
\nC7ORF10<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1026<\/td>\nFumaric Aciduria<\/td>\nFumaric Aciduria<\/td>\nFH<\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0789<\/td>\n\u03b2\u2010ketothiolase Deficiency<\/td>\n\u03b2\u2010ketothiolase Deficiency<\/td>\nACAT1<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1027<\/td>\nHomocystinuria(Mitochondrial
\nDiseases)<\/td>\n		Homocystinuria(Mitochondrial
\nDiseases)<\/td>\n		\u06f7 genes: MMACHC, MMADHC, MTRR, MTR,<\/em>
\nMTHFR, CBS, LMBRD1<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1028<\/td>\nCobalamin Metabolism Disorders<\/td>\nCobalamin Metabolism Disorders<\/td>\n\u06f5 genes: MMACHC, MTRR, MTR, MMADHC,<\/em>
\nLMBRD1<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1029<\/td>\nAcyl\u2010CoA Dehydrogenase Deficiency<\/td>\nAcyl\u2010CoA Dehydrogenase Deficiency<\/td>\n\u06f8 genes: ACADL, ACAD9, ETFA, ETFB,<\/em>
\nETFDH, ACADM, ACADS, ACADVL<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1030<\/td>\nPyruvate Dehydrogenase Deficiency<\/td>\nPyruvate Dehydrogenase Deficiency<\/td>\n\u06f6 genes: PDHA1, PDHB, PDP1, PDHX, DLD,<\/em>
\nDLAT<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0894<\/td>\nPyruvate Carboxylase Deficiency<\/td>\nPyruvate Carboxylase Deficiency<\/td>\nPC<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0898<\/td>\n\u06f3\u2010hydroxyacyl\u2010CoA Dehydrogenase
\nDeficiency<\/td>\n		\u06f3\u2010hydroxyacyl\u2010CoA Dehydrogenase
\nDeficiency<\/td>\n		HADH<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0899<\/td>\nLong\u2010chain 3\u2010hydroxyacyl\u2010CoA
\nDehydrogenase Deficiency<\/td>\n		Long\u2010chain 3\u2010hydroxyacyl\u2010CoA
\nDehydrogenase Deficiency<\/td>\n		HADHA<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
P087<\/td>\nCarnitine Palmitoyltransferase
\nDeficiency<\/td>\n		Carnitine Palmitoyltransferase
\nDeficiency<\/td>\n		CPT1A, CPT2<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0901<\/td>\nPrimary Carnitine Deficiency<\/td>\nPrimary Carnitine Deficiency<\/td>\nSLC22A5<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0902<\/td>\nCarnitine\u2010acylcarnitine Translocase
\nDeficiency<\/td>\n		Carnitine\u2010acylcarnitine Translocase
\nDeficiency<\/td>\n		SLC25A20<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1031<\/td>\nAcetyl\u2010CoA Carboxylase Deficiency<\/td>\nAcetyl\u2010CoA Carboxylase Deficiency<\/td>\nACACA, ACACB<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1032<\/td>\nTrifunctional Protein Deficiency<\/td>\nTrifunctional Protein Deficiency<\/td>\nHADHA, HADHB<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1033<\/td>\nLactic Acidosis<\/td>\nLactic Acidosis<\/td>\n\u06f7\u06f4 genes: FBP1, G6PC, GYS2, DNM1L,<\/em>
\nACAD9, ADCK3, ATP5E, ATPAF2, BCS1L,<\/em>
\nC8ORF38, NDUFAF5, COQ2, COQ9, COX6B1,<\/em>
\nCOX10, COX15, DARS2, DGUOK, DLAT, DLD,<\/em>
\nETFA, ETFB, ETFDH, ETHE1, FH, FOXRED1,<\/em>
\nGFM1, ISCU, LRPPRC, MRPS16, MRPS22,<\/em>
\nNDUFA11, NDUFAF1, NDUFAF3, NDUFAF4,<\/em>
\nNDUFB3, NDUFS1, NDUFS2, NDUFS3,<\/em>
\nNDUFS4, NDUFS6, NDUFS7, NDUFS8,<\/em>
\nNDUFV1, NFU1, PC, PDHA1, PDHB, PDHX,<\/em>
\nPDP1, PDSS1, PDSS2, POLG, PUS1, RRM2B,<\/em>
\nSCO2, SLC25A3, SLC25A4, SUCLA2, SUCLG1,<\/em>
\nSURF1, TAZ, TK2, TMEM70, TRMU, TSFM,<\/em>
\nTUFM, TYMP, UQCRB, YARS2, MT<\/em>\u2010<\/em>CO2, MT<\/em>\u2010<\/em>
\nCO3, MT<\/em>\u2010<\/em>TS1, MT<\/em>\u2010<\/em>ATP6<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1034<\/td>\nMitochondrial\u2010associated Endocrine
\nSystem Disease<\/td>\n		Mitochondrial\u2010associated Endocrine
\nSystem Disease<\/td>\n		\u06f1\u06f0 genes + MT<\/em>\u2010<\/em>DLOOP region: Including<\/em>
\ngenes from DX1035 to DX1036<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1035<\/td>\nMaternally inherited diabetes and
\ndeafness<\/td>\n		\n

Maternally inherited diabetes and
\ndeafness<\/p>\n<\/td>\n

\u06f6 genes: MT<\/em>\u2010<\/em>TL1, MT<\/em>\u2010<\/em>ND1, MT<\/em>\u2010<\/em>TK, MT<\/em>\u2010<\/em>
\nATP8, MT<\/em>\u2010<\/em>TS2, MT<\/em>\u2010<\/em>TE<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1036<\/td>\nMitochondrial Diabetes Mellitus<\/td>\nMitochondrial Diabetes Mellitus<\/td>\n\u06f6 genes + MT<\/em>\u2010<\/em>DLOOP region: MT<\/em>\u2010<\/em>TL1, MT<\/em>\u2010<\/em>
\nND1, MT<\/em>\u2010<\/em>ND2, MT<\/em>\u2010<\/em>ND3, MT<\/em>\u2010<\/em>ND4, MT<\/em>\u2010<\/em>ND6,<\/em>
\nMT<\/em>\u2010<\/em>DLOOP<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1037<\/td>\nGenetic testing for Mitochondrial\u2010
\nassociated Digestive System Disease<\/td>\n		Genetic testing for Mitochondrial\u2010
\nassociated Digestive System Disease<\/td>\n		Including genes in DX0952, and DX1038<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1038<\/td>\nHepatopathy and ketoacidosis<\/td>\nHepatopathy and ketoacidosis<\/td>\nSCO1<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX0952<\/td>\nProgressive familial intrahepatic
\ncholestasis<\/td>\n		Progressive familial intrahepatic
\ncholestasis<\/td>\n		ABCB4, ABCB11, ATP8B1<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1039<\/td>\nMitochondrial Cardiomyopathy<\/td>\nMitochondrial Cardiomyopathy<\/td>\n\u06f2\u06f6 genes + MT<\/em>\u2010<\/em>DLOOP region: MT<\/em>\u2010<\/em>RNR1,<\/em>
\nMT<\/em>\u2010<\/em>TV, MT<\/em>\u2010<\/em>TL1, MT<\/em>\u2010<\/em>ND1, MT<\/em>\u2010<\/em>TI, MT<\/em>\u2010<\/em>TW,<\/em>
\nMT<\/em>\u2010<\/em>CO2, MT<\/em>\u2010<\/em>TK, MT<\/em>\u2010<\/em>ATP6, MT<\/em>\u2010<\/em>TG, MT<\/em>\u2010<\/em>
\nND4, MT<\/em>\u2010<\/em>TH, MT<\/em>\u2010<\/em>TL2, MT<\/em>\u2010<\/em>ND5, MT<\/em>\u2010<\/em>CYB,<\/em>
\nMT<\/em>\u2010<\/em>DLOOP, COX9, COX10, COX15, SCO2,<\/em>
\nSLC25A4, SLC25A3, AARS2, DNAJC19, SDHA,<\/em>
\nTAZ, TSFM<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1040<\/td>\nFocal Segmental Glomerulosclerosis<\/td>\nFocal Segmental Glomerulosclerosis<\/td>\nMT<\/em>\u2010<\/em>TL1, MT<\/em>\u2010<\/em>TY<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1041<\/td>\nGenetic testing for Mitochondrial\u2010
\nassociated Multisystem Disease<\/td>\n		Genetic testing for Mitochondrial\u2010
\nassociated Multisystem Disease<\/td>\n		\u06f1\u06f2\u06f8 genes + MT<\/em>\u2010<\/em>DLOOP region: Including<\/em>
\ngenes from DX1042 to DX1068<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1042<\/td>\nMitochondrial Neurogastrointestinal
\nEncephalomyopathy<\/td>\n		Mitochondrial Neurogastrointestinal
\nEncephalomyopathy<\/td>\n		MT<\/em>\u2010<\/em>TK, POLG, TYMP<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1043<\/td>\nAlpers\u2010Huttenlocher Syndrome<\/td>\nAlpers\u2010Huttenlocher Syndrome<\/td>\nPOLG<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1044<\/td>\nLeukodystrophy and renal
\ntubulopathy<\/td>\n		Leukodystrophy and renal
\ntubulopathy<\/td>\n		\u06f6 genes: MT<\/em>\u2010<\/em>TF, MT<\/em>\u2010<\/em>TL1, MT<\/em>\u2010<\/em>TK, MT<\/em>\u2010<\/em>TE,<\/em>
\nCOX10, RRM2B<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1045<\/td>\nSideroblastic anemia with ataxia<\/td>\nSideroblastic anemia with ataxia<\/td>\nMT<\/em>\u2010<\/em>CO1, ABCB7, PUS1, YARS2<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1046<\/td>\nMitochondrial myopathy and
\nsideroblastic anemia<\/td>\n		Mitochondrial myopathy and
\nsideroblastic anemia<\/td>\n		PUS1, YARS2<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1047<\/td>\nKearns\u2010Sayre Syndrome<\/td>\nKearns\u2010Sayre Syndrome<\/td>\nMT<\/em>\u2010<\/em>TL1, MT<\/em>\u2010<\/em>TL2<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1048<\/td>\nRett Syndrome (Mitochondrial
\nDiseases)<\/td>\n		Rett Syndrome (Mitochondrial
\nDiseases)<\/td>\n		MT<\/em>\u2010<\/em>RNR2, MECP2<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1049<\/td>\nChronic intestinal pseudoobstruction
\nwith myopathy and ophthalmoplegia<\/td>\n		Chronic intestinal pseudoobstruction
\nwith myopathy and ophthalmoplegia<\/td>\n		MT<\/em>\u2010<\/em>TG, MT<\/em>\u2010<\/em>TS2<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1050<\/td>\nCyclic Vomiting Syndrome<\/td>\nCyclic Vomiting Syndrome<\/td>\nMT<\/em>\u2010<\/em>RNR2, MT<\/em>\u2010<\/em>DLOOP<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1051<\/td>\nMohr\u2010Tranebjaerg Syndrome<\/td>\nMohr\u2010Tranebjaerg Syndrome<\/td>\nTIMM8A<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1052<\/td>\nGRACILE Syndrome<\/td>\nGRACILE Syndrome<\/td>\nBCS1L<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1053<\/td>\nMyoglobinuria<\/td>\nMyoglobinuria<\/td>\nMT<\/em>\u2010<\/em>TF, MT<\/em>\u2010<\/em>TI, MT<\/em>\u2010<\/em>CO1, MT<\/em>\u2010<\/em>CO3<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1054<\/td>\nde Morsier Syndrome<\/td>\nde Morsier Syndrome<\/td>\nMT<\/em>\u2010<\/em>CYB<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1055<\/td>\nHUPRA Syndrome<\/td>\nHUPRA Syndrome<\/td>\nSARS2<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1056<\/td>\nPerrault Syndrome<\/td>\nPerrault Syndrome<\/td>\nHSD17B4, HARS2, CLPP, LARS2<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1057<\/td>\nCowden\u2010like Syndrome<\/td>\nCowden\u2010like Syndrome<\/td>\nSDHB, SDHD<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1058<\/td>\nCartilage\u2010hair Hypoplasia<\/td>\nCartilage\u2010hair Hypoplasia<\/td>\nRMRP<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1059<\/td>\nCoenzyme Q10 Deficiency<\/td>\nCoenzyme Q10 Deficiency<\/td>\n\u06f8 genes: ADCK3, APTX, COQ2, COQ6, COQ9,<\/em>
\nETFDH, PDSS1, PDSS2<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1060<\/td>\nMitochondrial DNA Depletion
\nSyndrome<\/td>\n		Mitochondrial DNA Depletion
\nSyndrome<\/td>\n		\u06f1\u06f5 genes: DGUOK, C10ORF2, MPV17, POLG,<\/em>
\nPOLG2, RRM2B, SUCLA2, SUCLG1, TK2,<\/em>
\nOPA1, OPA3, TYMP, AARS2, APTX, SLC25A4<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1061<\/td>\nMitochondrial Respiratory Chain
\nComplex I Deficiency<\/td>\n		Mitochondrial Respiratory Chain
\nComplex I Deficiency<\/td>\n		\u06f3\u06f9 genes: MT<\/em>\u2010<\/em>ND1, MT<\/em>\u2010<\/em>ND2, MT<\/em>\u2010<\/em>ND3, MT<\/em>\u2010<\/em>
\nND4, MT<\/em>\u2010<\/em>ND4L, MT<\/em>\u2010<\/em>ND5, MT<\/em>\u2010<\/em>ND6, ACAD9,<\/em>
\nPOLG, POLG2, TAZ, NDUFB3, SUCLA2,<\/em>
\nNDUFS1, NDUFS2, NDUFS3, NDUFS4,<\/em>
\nNDUFS6, NDUFS7, NDUFS8, NDUFAF1,<\/em>
\nNDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5,<\/em>
\nNDUFV1, NDUFV2, FOXRED1, NUBPL,<\/em>
\nC7ORF10, C8ORF38, NDUFA1, NDUFA2,<\/em>
\nNDUFA7, NDUFA9, NDUFA10, NDUFA11,<\/em>
\nNDUFA12, AIFM1<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1062<\/td>\nMitochondrial Respiratory Chain
\nComplex II Deficiency<\/td>\n		Mitochondrial Respiratory Chain
\nComplex II Deficiency<\/td>\n		SDHA, SDHAF1<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1063<\/td>\nMitochondrial Respiratory Chain
\nComplex III Deficiency<\/td>\n		Mitochondrial Respiratory Chain
\nComplex III Deficiency<\/td>\n		\u06f7 genes: MT<\/em>\u2010<\/em>CYB, BCS1L, TTC19, UQCRB,<\/em>
\nUQCRQ, UQCRC2, CYC1<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1064<\/td>\nMitochondrial Respiratory Chain
\nComplex IV Deficiency<\/td>\n		Mitochondrial Respiratory Chain
\nComplex IV Deficiency<\/td>\n		\u06f2\u06f0 genes: MT<\/em>\u2010<\/em>CO1, MT<\/em>\u2010<\/em>CO2, MT<\/em>\u2010<\/em>CO3,<\/em>
\nC2ORF64, ETHE1, FASTKD2, C12ORF62,<\/em>
\nCOX6B1, GFM1, COX10, COX15, LRPPRC,<\/em>
\nOPA1, OPA3, POLG, TACO1, SCO1, SCO2,<\/em>
\nSPG7, SURF1<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1065<\/td>\nMitochondrial Respiratory Chain
\nComplex V Deficiency<\/td>\n		Mitochondrial Respiratory Chain
\nComplex V Deficiency<\/td>\n		\u06f6 genes: MT<\/em>\u2010<\/em>ATP6, MT<\/em>\u2010<\/em>ATP8, ATPAF2,<\/em>
\nATP5E, ATP5A1, TMEM70<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1066<\/td>\nCombined Oxidative Phosphorylation
\nDeficiency<\/td>\n		Combined Oxidative Phosphorylation
\nDeficiency<\/td>\n		\u06f2\u06f8 genes: GFM1, MRPS16, TSFM, TUFM,<\/em>
\nTYMP, MRPS2, MRPS22, C12ORF65,<\/em>
\nC10ORF2, AARS2, AIFM1, DGUOK, MPV17,<\/em>
\nMRPL3, MTO1, OPA1, OPA3, POLG, POLG2,<\/em>
\nRMND1, RRM2B, SLC25A4, SUCLA2,<\/em>
\nSUCLG1, TK2, EARS2, FARS2, PNPT1<\/em><\/td>\n		\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1067<\/td>\nMitochondrial Super\u2010Complex
\nDeficiency<\/td>\n		Mitochondrial Super\u2010Complex
\nDeficiency<\/td>\n		ETFA, ETFB, ETFDH, TAZ<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\u06f2\u0645\u0627\u0647<\/td>\n<\/tr>\n
DX1068<\/td>\nMitochondrial Phosphate Carrier
\nDeficiency<\/td>\n		Mitochondrial Phosphate Carrier
\nDeficiency<\/td>\n		SLC25A3<\/em><\/td>\n\u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA<\/td>\nNGS<\/td>\n\n

\u06f2\u0645\u0627\u0647<\/p>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n","protected":false},"excerpt":{"rendered":"

\u0628\u06cc\u0645\u0627\u0631\u06cc\u0647\u0627\u06cc \u0645\u06cc\u062a\u0648\u06a9\u0646\u062f\u0631\u06cc ( Mitochondrial Diseases ) \u06a9\u062f \u0622\u0632\u0645\u0627\u06cc\u0634 \u0639\u0646\u0648\u0627\u0646 \u062a\u0634\u062e\u06cc\u0635 \u0628\u06cc\u0645\u0627\u0631\u06cc \u0646\u0627\u0645 \u0698\u0646(\u0647\u0627) \u0646\u0645\u0648\u0646\u0647 \u0645\u0648\u0631\u062f \u0646\u06cc\u0627\u0632 \u0631\u0648\u0634 \u0622\u0646\u0627\u0644\u06cc\u0632 \u0645\u062f\u062a \u0622\u0646\u0627\u0644\u06cc\u0632 DX0993 Genetic testing for Mitochondrial Diseases Genetic testing for Mitochondrial Diseases Including all genes in this system (244 genes + MT\u2010DLOOP region) \u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA NGS \u06f2\u0645\u0627\u0647 DX0994 Whole Mitochondrial Genome Sequencing Whole Mitochondrial […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":747,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/ebnsinagenelab.com\/index.php?rest_route=\/wp\/v2\/pages\/877"}],"collection":[{"href":"https:\/\/ebnsinagenelab.com\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/ebnsinagenelab.com\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/ebnsinagenelab.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/ebnsinagenelab.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=877"}],"version-history":[{"count":2,"href":"https:\/\/ebnsinagenelab.com\/index.php?rest_route=\/wp\/v2\/pages\/877\/revisions"}],"predecessor-version":[{"id":880,"href":"https:\/\/ebnsinagenelab.com\/index.php?rest_route=\/wp\/v2\/pages\/877\/revisions\/880"}],"up":[{"embeddable":true,"href":"https:\/\/ebnsinagenelab.com\/index.php?rest_route=\/wp\/v2\/pages\/747"}],"wp:attachment":[{"href":"https:\/\/ebnsinagenelab.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=877"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}