{"id":27039,"date":"2025-06-24T14:38:43","date_gmt":"2025-06-24T12:38:43","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-boli-metabolice-genetice-analiza-genetica-a-206-gene-ngscnv-si-analiza-biochimica-a-enzimelor-si-biomarkerilor-centometabolic-mox\/"},"modified":"2026-02-27T17:56:22","modified_gmt":"2026-02-27T15:56:22","slug":"panel-boli-metabolice-genetice-analiza-genetica-a-206-gene-ngscnv-si-analiza-biochimica-a-enzimelor-si-biomarkerilor-centometabolic-mox","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-boli-metabolice-genetice-analiza-genetica-a-206-gene-ngscnv-si-analiza-biochimica-a-enzimelor-si-biomarkerilor-centometabolic-mox\/","title":{"rendered":"Panel boli metabolice genetice: analiza genetica (NGS+CNV) si analiza biochimica a enzimelor si biomarkerilor-CentoMetabolic Mox"},"content":{"rendered":"<p><b>Panel boli metabolice genetice: analiza genetic\u0103 (NGS+CNV) \u0219i analiza biochimic\u0103 a enzimelor \u0219i biomarkerilor &#8211; CentoMetabolic MOX<\/b> este un serviciu de diagnostic de \u00eenalt\u0103 acurate\u021be, care integreaz\u0103 datele genetice \u0219i biochimice pentru evaluarea comprehensiv\u0103 a bolilor metabolice ereditare (Inborn Errors of Metabolism \u2013 IEM).<br \/>\n<br \/>Analiza genetic\u0103 utilizeaz\u0103 tehnologia <b>NGS (Next Generation Sequencing) <\/b>pentru investigarea genelor implicate \u00een metabolismul glucidelor, lipidelor, aminoacizilor, acizilor organici, metabolismului mitocondrial \u0219i lizozomal, completat\u0103 de analiza<b> CNV<\/b> pentru detectarea dele\u021biilor \u0219i duplica\u021biilor genomice relevante.<\/p>\n<p>\u00cen paralel, testul include <b>analiza biochimic\u0103 func\u021bional\u0103<\/b> a enzimelor \u0219i biomarkerilor metabolici specifici, oferind o corelare direct\u0103 \u00eentre modific\u0103rile genetice \u0219i impactul lor func\u021bional, esen\u021bial\u0103 pentru stabilirea unui diagnostic corect \u0219i rapid.<\/p>\n<p><b><font color=\"#ff9c00\">Afec\u021biuni sau indica\u021bii asociate:<\/font><\/b><\/p>\n<ul>\n<li>Boli metabolice ereditare (IEM);<\/li>\n<li>Erori \u00eenn\u0103scute de metabolism ale aminoacizilor, acizilor organici \u0219i acizilor gra\u0219i;<\/li>\n<li>Boli de stocaj lizozomal;<\/li>\n<li>Tulbur\u0103ri mitocondriale;<\/li>\n<li>Hipoglicemii severe sau recurente de etiologie neclar\u0103;<\/li>\n<li>\u00cent\u00e2rziere de dezvoltare, regres neurocognitiv;<\/li>\n<li>Hepatopatii, cardiomiopatii sau miopatii metabolice;<\/li>\n<li>Screening metabolic anormal sau inconcludent.<\/li>\n<\/ul>\n<p><b><font color=\"#ff9c00\">Cui se adreseaz\u0103:<br \/><\/font><\/b><\/p>\n<p>Medicilor geneticieni, pediatri, neonatologi, neurologi, speciali\u0219tilor \u00een boli metabolice, interni\u0219ti \u0219i altor speciali\u0219ti implica\u021bi \u00een diagnosticul pacien\u021bilor cu suspiciune de boal\u0103 metabolic\u0103 genetic\u0103.<\/p>\n<p><b><font color=\"#ff9c00\">Metodologie de testare:<br \/><\/font><\/b><\/p>\n<p>Testul combin\u0103:<\/p>\n<ul>\n<li><b>Analiza genetic\u0103 NGS<\/b> pentru genele implicate \u00een bolile metabolice ereditare;<\/li>\n<li><b>Analiza CNV<\/b> pentru detectarea dele\u021biilor \u0219i duplica\u021biilor relevante;<\/li>\n<li><b>Analize biochimice<\/b> ale enzimelor \u0219i biomarkerilor metabolici specifici (din s\u00e2nge, plasm\u0103, ser sau probe speciale, \u00een func\u021bie de indica\u021bia clinic\u0103).<\/li>\n<\/ul>\n<p>Integrarea rezultatelor genetice \u0219i biochimice permite o interpretare clinic\u0103 avansat\u0103 \u0219i cre\u0219te semnificativ rata de diagnostic.<\/p>\n<p><b><font color=\"#ff9c00\">Beneficii \u0219i importan\u021b\u0103 clinic\u0103:<br \/><\/font><\/b><\/p>\n<ul>\n<li>Cre\u0219te semnificativ acurate\u021bea \u0219i viteza diagnosticului bolilor metabolice genetice.<\/li>\n<li>Permite corelarea direct\u0103 genotip\u2013fenotip prin integrarea analizelor genetice \u0219i biochimice.<\/li>\n<li>Reduce necesitatea test\u0103rilor secven\u021biale multiple \u0219i a \u00eent\u00e2rzierilor diagnostice.<\/li>\n<li>Ofer\u0103 informa\u021bii esen\u021biale pentru ini\u021bierea precoce a terapiei specifice.<\/li>\n<li>Sus\u021bine consilierea genetic\u0103 familial\u0103 \u0219i evaluarea riscului de recuren\u021b\u0103.<\/li>\n<li>Contribuie la managementul personalizat \u0219i monitorizarea evolu\u021biei bolii.<\/li>\n<\/ul>\n<p><b><font color=\"#ff9c00\">Particularit\u0103\u021bi \u0219i limit\u0103ri:<br \/><\/font><\/b><\/p>\n<ul>\n<li>Testul este direc\u021bionat c\u0103tre bolile metabolice genetice; alte etiologii non-metabolice necesit\u0103 investiga\u021bii suplimentare.<\/li>\n<li>Nu toate defectele metabolice pot fi confirmate biochimic \u00een anumite stadii ale bolii.<\/li>\n<li>Unele variante genetice pot avea semnifica\u021bie clinic\u0103 incert\u0103 \u0219i necesit\u0103 corelare clinic\u0103.<\/li>\n<li>Interpretarea rezultatelor se realizeaz\u0103 \u00een context multidisciplinar.<\/li>\n<\/ul>\n<p><font color=\"#ff9c00\"><b>Tip prob\u0103:<\/b><\/font><\/p>\n<p>S\u00e2nge periferic (EDTA) \u0219i\/sau probe biologice specifice pentru analiza biochimic\u0103 (\u00een func\u021bie de indica\u021bia clinic\u0103).<\/p>\n<p><b><font color=\"#ff9c00\">Recoltare:<\/font><\/b><\/p>\n<p>Tub mov EDTA 2*6 ml<\/p>\n<p><b><font color=\"#ff9c00\">Condi\u021bii:<br \/><\/font><\/b><\/p>\n<p>Transport controlat<\/p>\n<p><b><font color=\"#ff9c00\">Analize asociate recomandate:<br \/><\/font><\/b><\/p>\n<ul>\n<li>Consiliere genetic\u0103 pre- \u0219i post-testare;<\/li>\n<li>Screening metabolic extins;<\/li>\n<li>Analize biochimice metabolice complementare;<\/li>\n<li>Panel NGS pentru boli mitocondriale sau lizozomale;<\/li>\n<li>Monitorizare clinic\u0103 \u0219i metabolic\u0103 pe termen lung.<b><font color=\"#ff9c00\"><br \/><\/font><\/b><\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Test complex integrat pentru diagnosticul bolilor metabolice genetice, care combin\u0103 <b>analiza genetic\u0103 avansat\u0103 (NGS + CNV) <\/b>cu<b> analiza biochimic\u0103 specific\u0103 a enzimelor \u0219i biomarkerilor metabolici<\/b>, permi\u021b\u00e2nd identificarea precis\u0103 a defectelor metabolice ereditare.<\/p>\n<p><b><font color=\"#ff9c00\">Lista genelor incluse:<\/font><\/b><\/p>\n<p>ABCA1, ABCB4, ABCC2, ABCD1, ABCD4, ABCG5, ABCG8, ACAT1, ADA, AGA, AGL, AGPS, AGXT, ALAD, ALAS2, ALDH4A1, ALDOA, ALDOB, ALG3, ALPL, ANTXR2, APOA2, APOA5, APOB, APOC2, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DHCR7, DNAJC5, DPYD, ENO3, ENPP1, EPHX2, ETHE1, FAH, FBP1, FECH, FGF23, FUCA1, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA1, GBE1, GHR, GK, GLA, GLB1, GM2A, GNPAT, GNPTAB, GNPTG, GNS, GUSB, GYG1, GYS1, GYS2, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HJV, HLCS, HMBS, HPD, HPRT1, HSD3B2, HYAL1, IDS, IDUA, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LMBRD1, LPL, MAN2B1, MANBA, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, NAGA, NAGLU, NAGS, NEU1, NPC1, NPC2, OTC, PAH, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, POR, PPOX, PPT1, PRKAG2, PSAP, PYGL, PYGM, RBCK1, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A36, SLC2A1, SLC2A2, SLC37A4, SLC3A1, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SUMF1, TAT, TFR2, TPP1, UGT1A1, UMPS, UROD, UROS<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3166,2876],"product_tag":[],"class_list":["post-27039","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 5.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Test complex integrat pentru diagnosticul bolilor metabolice genetice, care combin\u0103 analiza genetic\u0103 avansat\u0103 (NGS + CNV) cu analiza biochimic\u0103 specific\u0103 a enzimelor \u0219i biomarkerilor metabolici, permi\u021b\u00e2nd identificarea precis\u0103 a defectelor metabolice ereditare.Lista genelor incluse:ABCA1, ABCB4, ABCC2, ABCD1, ABCD4, ABCG5, ABCG8, ACAT1, ADA, AGA, AGL, AGPS, AGXT, ALAD, ALAS2, ALDH4A1, ALDOA, ALDOB, ALG3, ALPL, ANTXR2, APOA2, APOA5, APOB, APOC2, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DHCR7, DNAJC5, DPYD, ENO3, ENPP1, EPHX2, ETHE1, FAH, FBP1, FECH, FGF23, FUCA1, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA1, GBE1, GHR, GK, GLA, GLB1, GM2A, GNPAT, GNPTAB, GNPTG, GNS, GUSB, GYG1, GYS1, GYS2, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HJV, HLCS, HMBS, HPD, HPRT1, HSD3B2, HYAL1, IDS, IDUA, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LMBRD1, LPL, MAN2B1, MANBA, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, NAGA, NAGLU, NAGS, NEU1, NPC1, NPC2, OTC, PAH, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, POR, PPOX, PPT1, PRKAG2, PSAP, PYGL, PYGM, RBCK1, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A36, SLC2A1, SLC2A2, SLC37A4, SLC3A1, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SUMF1, TAT, TFR2, TPP1, UGT1A1, UMPS, UROD, UROS\" \/>\n\t<meta name=\"robots\" content=\"max-image-preview:large\" \/>\n\t<link rel=\"canonical\" href=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-boli-metabolice-genetice-analiza-genetica-a-206-gene-ngscnv-si-analiza-biochimica-a-enzimelor-si-biomarkerilor-centometabolic-mox\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO Pro (AIOSEO) 5.0.1\" \/>\n\t\t<meta property=\"og:locale\" content=\"ro_RO\" \/>\n\t\t<meta property=\"og:site_name\" content=\"Clinica Sante - Laborator de Analize Medicale - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:type\" content=\"article\" \/>\n\t\t<meta property=\"og:title\" content=\"Panel boli metabolice genetice: analiza genetica (NGS+CNV) si analiza biochimica a enzimelor si biomarkerilor-CentoMetabolic Mox - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:description\" content=\"Test complex integrat pentru diagnosticul bolilor metabolice genetice, care combin\u0103 analiza genetic\u0103 avansat\u0103 (NGS + CNV) cu analiza biochimic\u0103 specific\u0103 a enzimelor \u0219i biomarkerilor metabolici, permi\u021b\u00e2nd identificarea precis\u0103 a defectelor metabolice ereditare.Lista genelor incluse:ABCA1, ABCB4, ABCC2, ABCD1, ABCD4, ABCG5, ABCG8, ACAT1, ADA, AGA, AGL, AGPS, AGXT, ALAD, ALAS2, ALDH4A1, ALDOA, ALDOB, ALG3, ALPL, ANTXR2, APOA2, APOA5, APOB, APOC2, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DHCR7, DNAJC5, DPYD, ENO3, ENPP1, EPHX2, ETHE1, FAH, FBP1, FECH, FGF23, FUCA1, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA1, GBE1, GHR, GK, GLA, GLB1, GM2A, GNPAT, GNPTAB, GNPTG, GNS, GUSB, GYG1, GYS1, GYS2, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HJV, HLCS, HMBS, HPD, HPRT1, HSD3B2, HYAL1, IDS, IDUA, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LMBRD1, LPL, MAN2B1, MANBA, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, NAGA, NAGLU, NAGS, NEU1, NPC1, NPC2, OTC, PAH, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, POR, PPOX, PPT1, PRKAG2, PSAP, PYGL, PYGM, RBCK1, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A36, SLC2A1, SLC2A2, SLC37A4, SLC3A1, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SUMF1, TAT, TFR2, TPP1, UGT1A1, UMPS, UROD, UROS\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-boli-metabolice-genetice-analiza-genetica-a-206-gene-ngscnv-si-analiza-biochimica-a-enzimelor-si-biomarkerilor-centometabolic-mox\/\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2025-06-24T12:38:43+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-02-27T15:56:22+00:00\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:title\" content=\"Panel boli metabolice genetice: analiza genetica (NGS+CNV) si analiza biochimica a enzimelor si biomarkerilor-CentoMetabolic Mox - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta name=\"twitter:description\" content=\"Test complex integrat pentru diagnosticul bolilor metabolice genetice, care combin\u0103 analiza genetic\u0103 avansat\u0103 (NGS + CNV) cu analiza biochimic\u0103 specific\u0103 a enzimelor \u0219i biomarkerilor metabolici, permi\u021b\u00e2nd identificarea precis\u0103 a defectelor metabolice ereditare.Lista genelor incluse:ABCA1, ABCB4, ABCC2, ABCD1, ABCD4, ABCG5, ABCG8, ACAT1, ADA, AGA, AGL, AGPS, AGXT, ALAD, ALAS2, ALDH4A1, ALDOA, ALDOB, ALG3, ALPL, ANTXR2, APOA2, APOA5, APOB, APOC2, APOE, ARG1, ARSA, ARSB, ASAH1, ASL, ASS1, ATP7A, ATP7B, BCKDHA, BCKDHB, BTD, CBS, CD320, CETP, CLN3, CLN5, CLN6, CLN8, CPOX, CPS1, CPT1A, CTNS, CTSA, CTSD, CTSK, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DBT, DDC, DHCR7, DNAJC5, DPYD, ENO3, ENPP1, EPHX2, ETHE1, FAH, FBP1, FECH, FGF23, FUCA1, G6PC1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA1, GBE1, GHR, GK, GLA, GLB1, GM2A, GNPAT, GNPTAB, GNPTG, GNS, GUSB, GYG1, GYS1, GYS2, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HJV, HLCS, HMBS, HPD, HPRT1, HSD3B2, HYAL1, IDS, IDUA, IVD, KHK, LAMP2, LCAT, LDHA, LDLR, LDLRAP1, LIPA, LIPC, LMBRD1, LPL, MAN2B1, MANBA, MCOLN1, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MMUT, NAGA, NAGLU, NAGS, NEU1, NPC1, NPC2, OTC, PAH, PCSK9, PDHB, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PKLR, PNPO, POR, PPOX, PPT1, PRKAG2, PSAP, PYGL, PYGM, RBCK1, SGSH, SI, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC25A36, SLC2A1, SLC2A2, SLC37A4, SLC3A1, SLC40A1, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SUMF1, TAT, TFR2, TPP1, UGT1A1, UMPS, UROD, UROS\" \/>\n\t\t<script type=\"application\/ld+json\" class=\"aioseo-schema\">\n\t\t\t{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/panel-boli-metabolice-genetice-analiza-genetica-a-206-gene-ngscnv-si-analiza-biochimica-a-enzimelor-si-biomarkerilor-centometabolic-mox\\\/#breadcrumblist\",\"itemListElement\":[{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro#listItem\",\"position\":1,\"name\":\"Prima 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