{"id":886,"date":"2017-01-15T00:20:44","date_gmt":"2017-01-14T20:50:44","guid":{"rendered":"http:\/\/ebnsinagenelab.com\/?page_id=886"},"modified":"2017-01-15T00:22:06","modified_gmt":"2017-01-14T20:52:06","slug":"%d8%a8%db%8c%d9%85%d8%a7%d8%b1%db%8c%d9%87%d8%a7%db%8c-%d9%85%d8%aa%d8%a7%d8%a8%d9%88%d9%84%db%8c%da%a9-%d8%a7%d8%b1%d8%ab%db%8c","status":"publish","type":"page","link":"https:\/\/ebnsinagenelab.com\/?page_id=886","title":{"rendered":"\u0628\u06cc\u0645\u0627\u0631\u06cc\u0647\u0627\u06cc \u0645\u062a\u0627\u0628\u0648\u0644\u06cc\u06a9 \u0627\u0631\u062b\u06cc"},"content":{"rendered":"

\u0628\u06cc\u0645\u0627\u0631\u06cc\u0647\u0627\u06cc \u0645\u062a\u0627\u0628\u0648\u0644\u06cc\u06a9 \u0627\u0631\u062b\u06cc<\/span><\/p>\n

( Inherited Metabolic 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
\u06a9\u062f \u0622\u0632\u0645\u0627\u06cc\u0634<\/strong><\/td>\n\u0639\u0646\u0648\u0627\u0646<\/strong><\/td>\n\u062a\u0634\u062e\u06cc\u0635 \u0628\u06cc\u0645\u0627\u0631\u06cc<\/strong><\/td>\n\u0646\u0627\u0645 \u0698\u0646(\u0647\u0627<\/strong>)<\/strong><\/td>\n\u0646\u0645\u0648\u0646\u0647 \u0645\u0648\u0631\u062f \u0646\u06cc\u0627\u0632 <\/strong><\/td>\n\u0631\u0648\u0634 \u0622\u0646\u0627\u0644\u06cc\u0632 <\/strong><\/td>\n\u0645\u062f\u062a \u0622\u0646\u0627\u0644\u06cc\u0632 <\/strong><\/td>\n<\/tr>\n
DX0883<\/td>\nGenetic Testing for Inherited
\nMetabolic Disorders,<\/td>\n		Genetic Testing for Inherited
\nMetabolic Disorders,<\/td>\n		\u06f1\u06f1\u06f8 genes (including all diseases and genes<\/em>
\nfrom DX0884 to DX0922 below)<\/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
DX0884<\/td>\nMetabolic Disorders of Amino Acid<\/td>\nMetabolic Disorders of Amino Acid<\/td>\n\u06f2\u06f6 genes including genes from DX0773 to<\/em>
\nDX0782, DX0885 to DX0887, DX0888,<\/em>
\nDX0889, DX0890<\/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
DX0773<\/td>\nPhenylketonuria<\/td>\nPhenylketonuria<\/td>\nPAH<\/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
DX0774<\/td>\nTetrahydrobiopterin deficiency<\/td>\nTetrahydrobiopterin deficiency<\/td>\nPTS, QDPR, GCH1, PCBD1<\/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
 <\/p>\n

DX0775<\/td>\n

Maple Syrup Urine Disease<\/td>\nMaple Syrup Urine Disease<\/td>\nBCKDHA, BCKDHB, DBT<\/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
DX0776<\/td>\nCitrullinemia<\/td>\nCitrullinemia<\/td>\nASS1, SLC25A13<\/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
DX0885<\/td>\nArgininosuccinate Lyase Deficiency<\/td>\nArgininosuccinate Lyase Deficiency<\/td>\nASL<\/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
DX0886<\/td>\nArginase Deficiency<\/td>\nArginase Deficiency<\/td>\nARG1<\/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
DX0887<\/td>\nHyperornithinemia\u2010
\nHyperammonemia\u2010Homocitrullinuria
\nSyndrome<\/td>\n		Hyperornithinemia\u2010
\nHyperammonemia Homocitrullinuria
\nSyndrome<\/td>\n		SLC25A15<\/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
S0034<\/td>\nOrnithine Transcarbamylase
\nDeficiency<\/td>\n		Ornithine Transcarbamylase
\nDeficiency<\/td>\n		OTC<\/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
DX0778<\/td>\nCarbamoyl phosphate synthetase I deficiency<\/td>\nCarbamoyl phosphate synthetase I deficiency<\/td>\nCPS1<\/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
DX0779<\/td>\nHomocystinuria<\/td>\nHomocystinuria<\/td>\nCBS, MTHFR<\/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
DX0780<\/td>\nHypermethioninemia<\/td>\nHypermethioninemia<\/td>\nMAT1A<\/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
DX0781<\/td>\nTyrosinemia<\/td>\nTyrosinemia<\/td>\nHPD, TAT, FAH<\/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
DX0888<\/td>\nTyrosine Hydroxylase Deficiency<\/td>\nTyrosine Hydroxylase Deficiency<\/td>\nTH<\/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
DX0889<\/td>\nHistidinemia<\/td>\nHistidinemia<\/td>\nHAL<\/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
DX0782<\/td>\nHyperprolinemia<\/td>\nHyperprolinemia<\/td>\nALDH4A1, PRODH<\/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
DX0890<\/td>\nCystinosis<\/td>\nCystinosis<\/td>\nCTNS<\/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
DX0891<\/td>\nOrganic Acidemias<\/td>\nOrganic Acidemias<\/td>\n\u06f2\u06f0 genes including genes from DX0783 to<\/em>
\nDX0789, DX0892, DX0893, DX0894 to<\/em>
\nDX0896<\/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
DX0783<\/td>\nGlutaric acidemia<\/td>\nGlutaric acidemia<\/td>\nGCDH, ETFA, ETFB, ETFDH<\/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
DX0784<\/td>\nIsovaleric acidemia<\/td>\nIsovaleric acidemia<\/td>\nIVD<\/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
DX0785<\/td>\n\u06f3\u2010methylcrotonyl\u2010CoA carboxylase
\ndeficiency<\/td>\n		\u06f3\u2010methylcrotonyl\u2010CoA carboxylase
\ndeficiency<\/td>\n		MCCC1, MCCC2<\/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
DX0892<\/td>\nMalonyl\u2010CoA decarboxylase
\ndeficiency<\/td>\n		Malonyl\u2010CoA decarboxylase
\ndeficiency<\/td>\n		MLYCD<\/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
DX0786<\/td>\nPropionic Acidemia<\/td>\nPropionic Acidemia<\/td>\nPCCA, PCCB<\/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
DX0787<\/td>\nMethylmalonic Acidemia<\/td>\nMethylmalonic Acidemia<\/td>\n\u06f5 genes: MUT, MMAA, MMAB, MCEE,<\/em>
\nMMADHC<\/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
DX0788<\/td>\nBiotinidase deficiency<\/td>\nBiotinidase deficiency<\/td>\nBTD<\/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
DX0893<\/td>\nAlkaptonuria<\/td>\nAlkaptonuria<\/td>\nHGD<\/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
DX0789<\/td>\nBeta\u2010ketothiolase deficiency<\/td>\nBeta\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
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
DX0895<\/td>\nPrimary Hyperoxaluria Type 2<\/td>\nPrimary Hyperoxaluria Type 2<\/td>\nGRHPR<\/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
DX0896<\/td>\nSialuria<\/td>\nSialuria<\/td>\nGNE<\/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
DX0897<\/td>\nFatty Acid oxidation Deficiency<\/td>\nFatty Acid oxidation Deficiency<\/td>\n\u06f9 genes: including genes from DX0790 to<\/em>
\nDX0792, DX0898 to DX0902<\/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
DX0790<\/td>\nVery Long\u2010Chain Acyl\u2010CoA
\nDehydrogenase Deficiency<\/td>\n		Very Long\u2010Chain Acyl\u2010CoA
\nDehydrogenase Deficiency<\/td>\n		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
DX0791<\/td>\nShort\u2010Chain Acyl\u2010CoA Dehydrogenase
\nDeficiency<\/td>\n		Short\u2010Chain Acyl\u2010CoA Dehydrogenase
\nDeficiency<\/td>\n		ACADS<\/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
DX0792<\/td>\nMedium\u2010Chain Acyl\u2010CoA
\nDehydrogenase Deficiency<\/td>\n		Medium\u2010Chain Acyl\u2010CoA
\nDehydrogenase Deficiency<\/td>\n		ACADM<\/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 type<\/td>\n		Carnitine Palmitoyltransferase
\nDeficiency type<\/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
S0156<\/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
DX0903<\/td>\nDisorders of Glucose Metabolism<\/td>\nDisorders of Glucose Metabolism<\/td>\n\u06f1\u06f8 genes including genes from DX0904 to<\/em>
\nDX0909, and DX0833<\/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
DX0904<\/td>\nGalactosemia<\/td>\nGalactosemia<\/td>\nGALT<\/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
DX0905<\/td>\nGlucose\u2010\u06f6\u2010Phosphate Dehydrogenase
\nDeficiency<\/td>\n		Glucose\u2010\u06f6\u2010Phosphate Dehydrogenase
\nDeficiency<\/td>\n		G6PD<\/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
DX0906<\/td>\nHereditary Fructose Intolerance<\/td>\nHereditary Fructose Intolerance<\/td>\nALDOB<\/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
DX0907<\/td>\nGlycogen storage diseases<\/td>\nGlycogen storage diseases<\/td>\n\u06f1\u06f1 genes: AGL, ALDOA, ENO3, G6PC, GAA,<\/em>
\nGYS1, LDHA, PYGM, PGM1, PHKG2, GBE1<\/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
DX0908<\/td>\nGlycogen storage disease type II<\/td>\nGlycogen storage disease type II<\/td>\nGAA<\/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
DX0909<\/td>\nCongenital disorder of glycosylation
\ntype Ia<\/td>\n		Congenital disorder of glycosylation
\ntype Ia<\/td>\n		PMM2<\/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
DX0833<\/td>\nLafora Disease<\/td>\nLafora Disease<\/td>\nEPM2A, NHLRC1<\/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
DX0910<\/td>\nLysosomal Storage Disorders<\/td>\nLysosomal Storage Disorders<\/td>\n\u06f1\u06f8 genes including genes from DX0793 to<\/em>
\nDX0800<\/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
DX0793<\/td>\nMucopolysaccharidosis<\/td>\nMucopolysaccharidosis<\/td>\nIDS, GLB1<\/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
DX0794<\/td>\nKrabbe Disease<\/td>\nKrabbe Disease<\/td>\nGALC<\/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
DX0795<\/td>\nNeuronal Ceroid\u2010Lipofuscinoses<\/td>\nNeuronal Ceroid\u2010Lipofuscinoses<\/td>\n\u06f8 genes: PPT1, CTSD, TPP1, CLN3, CLN5,<\/em>
\nCLN6, MFSD8, CLN8<\/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
DX0796<\/td>\nMetachromatic leukodystrophy due
\nto Arylsulfatase A<\/td>\n		Metachromatic leukodystrophy due
\nto Arylsulfatase A<\/td>\n		ARSA<\/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
DX0797<\/td>\nFabry disease<\/td>\nFabry disease<\/td>\nGLA<\/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
DX0798<\/td>\nAspartylglycosaminuria<\/td>\nAspartylglycosaminuria<\/td>\nAGA<\/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
DX0799<\/td>\nNiemann\u2010Pick Disease<\/td>\nNiemann\u2010Pick Disease<\/td>\nSMPD1, NPC1, NPC2<\/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
DX0800<\/td>\nGangliosidosis<\/td>\nGangliosidosis<\/td>\nGLB1, GM2A<\/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
DX0911<\/td>\nPeroxisomal Disorders,<\/td>\nPeroxisomal Disorders,<\/td>\n\u06f1\u06f3 genes: ABCD1, PEX1, PEX10, PEX12,<\/em>
\nPEX13, PEX14, PEX16, PEX19, PEX26,<\/em>
\nPEX3, PEX6, PEX2, PEX5<\/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
DX0801<\/td>\nX\u2010linked adrenoleukodystrophy<\/td>\nX\u2010linked adrenoleukodystrophy<\/p>\n

 <\/p>\n

 <\/td>\n

ABCD1<\/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
DX0802<\/td>\nPeroxisome Biogenesis Disorders
\n(Zellweger Syndrome Spectrum)<\/td>\n		Peroxisome Biogenesis Disorders
\n(Zellweger Syndrome Spectrum)<\/td>\n		\u06f1\u06f2 genes: PEX1, PEX10, PEX12, PEX13,<\/em>
\nPEX14, PEX16, PEX19, PEX26, PEX3,<\/em>
\nPEX6, PEX2, PEX5<\/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
DX0912<\/td>\nDisorders of Metal Metabolism<\/td>\nDisorders of Metal Metabolism<\/td>\nATP7A, ATP7B<\/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
DX0805<\/td>\nMenkes Disease<\/td>\nMenkes Disease<\/td>\nATP7A<\/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
DX0761<\/td>\nWilson Disease <\/em><\/td>\nWilson Disease<\/em><\/td>\nATP7B<\/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
DX0913<\/td>\nDisorders of Lipoprotein Metabolism<\/td>\nDisorders of Lipoprotein Metabolism<\/td>\n\u06f6 genes: AGPAT2, BSCL2, ABCG5, ABCG8,<\/em>
\nLPL, CYP27A1<\/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
DX0914<\/td>\nCongenital Generalized Lipodystrophy <\/em><\/td>\nCongenital Generalized Lipodystrophy<\/em><\/td>\nAGPAT2, BSCL2<\/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
DX0915<\/td>\nSitosterolemia <\/em><\/td>\nSitosterolemia<\/em><\/td>\nABCG5, ABCG8<\/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
DX0916<\/td>\nFamilial Lipoprotein Lipase Deficiency <\/em><\/td>\nFamilial Lipoprotein Lipase Deficiency<\/em><\/td>\nLPL<\/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
DX0803<\/td>\nCerebrotendinous Xanthomatosis <\/em><\/td>\nCerebrotendinous Xanthomatosis<\/em><\/td>\nCYP27A1<\/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
DX0917<\/td>\nDisorders of protein Metabolism <\/em><\/td>\nDisorders of protein Metabolism<\/em><\/td>\nSERPINA1, VPS13A<\/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
DX0918<\/td>\nAlpha\u2010\u06f1\u2010Antitrypsin Deficiency<\/td>\nAlpha\u2010\u06f1\u2010Antitrypsin Deficiency<\/td>\nSERPINA1<\/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
DX0828<\/td>\nChorea\u2010Acanthocytosis<\/td>\nChorea\u2010Acanthocytosis<\/td>\nVPS13A<\/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
DX0919<\/td>\n\u06f2\u06f1\u2010Hydroxylase\u2010Deficient Congenital
\nAdrenal Hyperplasia<\/td>\n		\u06f2\u06f1\u2010Hydroxylase\u2010Deficient Congenital
\nAdrenal Hyperplasia<\/td>\n		CYP21A2<\/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
DX0920<\/td>\nDihydropyrimidine Dehydrogenase
\nDeficiency<\/td>\n		Dihydropyrimidine Dehydrogenase
\nDeficiency<\/td>\n		DPYD<\/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
DX0804<\/td>\nPyruvate Decarboxylase Deficiency<\/td>\nPyruvate Decarboxylase Deficiency<\/td>\nPDHA1<\/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
DX0921<\/td>\nPyruvate Dehydrogenase
\nPhosphatase Deficiency<\/td>\n		Pyruvate Dehydrogenase
\nPhosphatase Deficiency<\/td>\n		PDP1<\/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
DX0922<\/td>\nPyruvate Dehydrogenase E3\u2010Binding
\nProtein Deficiency<\/td>\n		Pyruvate Dehydrogenase E3\u2010Binding
\nProtein Deficiency<\/td>\n		PDHX<\/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<\/tbody>\n<\/table>\n","protected":false},"excerpt":{"rendered":"

\u0628\u06cc\u0645\u0627\u0631\u06cc\u0647\u0627\u06cc \u0645\u062a\u0627\u0628\u0648\u0644\u06cc\u06a9 \u0627\u0631\u062b\u06cc ( Inherited Metabolic 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 DX0883 Genetic Testing for Inherited Metabolic Disorders, Genetic Testing for Inherited Metabolic Disorders, \u06f1\u06f1\u06f8 genes (including all diseases and genes from DX0884 to DX0922 below) \u062e\u0648\u0646 \u0648\u0631\u06cc\u062f\u06cc \u062d\u0627\u0648\u06cc EDTA NGS \u06f2\u0645\u0627\u0647 DX0884 Metabolic […]<\/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\/886"}],"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=886"}],"version-history":[{"count":2,"href":"https:\/\/ebnsinagenelab.com\/index.php?rest_route=\/wp\/v2\/pages\/886\/revisions"}],"predecessor-version":[{"id":889,"href":"https:\/\/ebnsinagenelab.com\/index.php?rest_route=\/wp\/v2\/pages\/886\/revisions\/889"}],"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=886"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}