{"id":26814,"date":"2025-06-24T15:24:53","date_gmt":"2025-06-24T12:24:53","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/pgx-testare-farmacogenetica-extinsa-sonogen\/"},"modified":"2026-07-02T12:19:19","modified_gmt":"2026-07-02T09:19:19","slug":"pgx-testare-farmacogenetica-extinsa-sonogen","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-farmacogenetica-si-farmacogenomica\/pgx-testare-farmacogenetica-extinsa-sonogen\/","title":{"rendered":"PGx -Testare farmacogenetica extinsa SONOGEN"},"content":{"rendered":"

Testul SONOGEN PGx extins<\/strong> utilizeaz\u0103 secven\u021biere masiv paralel\u0103 a exomului (Whole Exome Sequencing)<\/strong> pentru a analiza regiuni codante \u0219i jonc\u021biuni exon\u2013intron ale genelor implicate \u00een farmacogenomic\u0103, incluz\u00e2nd \u0219i ADN mitocondrial, precum \u0219i regiuni intronice relevante clinic.<\/p>\n

Metodologia tehnic\u0103 include:<\/h3>\n
    \n
  • Twist Capture Human Exome 2.0 + Comprehensive Exome Spike-in<\/strong>\n
      \n
    • \u00eembog\u0103\u021birea exonilor codan\u021bi<\/li>\n
    • captarea jonc\u021biunilor exon\u2013intron ale genelor farmacogenetice<\/li>\n
    • includerea ADN-ului mitocondrial \u0219i a regiunilor intronice de interes clinic<\/li>\n<\/ul>\n<\/li>\n
    • Secven\u021biere Illumina NovaSeq 6000<\/strong>\n
        \n
      • citiri paired-end de 150 bp<\/li>\n<\/ul>\n<\/li>\n
      • Control al identit\u0103\u021bii genetice<\/strong>\n
          \n
        • 15 markeri polimorfici (AS-PCR) monitoriza\u021bi pe tot parcursul fluxului analitic<\/li>\n<\/ul>\n<\/li>\n
        • Pipeline bioinformatic local (Hg38)<\/strong>\n
            \n
          • identificare SNV, Indel \u0219i CNV<\/li>\n
          • interpretare farmacogenomic\u0103 integrat\u0103<\/li>\n<\/ul>\n<\/li>\n
          • Platforma SONOGENE CE-IVD<\/strong>\n
              \n
            • genereaz\u0103 profilul farmacogenetic clinic final<\/li>\n<\/ul>\n<\/li>\n
            • Verificare suplimentar\u0103<\/strong>\n
                \n
              • variante neacoperite complet pot fi confirmate prin Sanger sequencing sau Snapshot<\/strong><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n

                Interpre\u00adtare clinic\u0103 – interac\u021biuni medicament – gen\u0103<\/h3>\n

                Rezultatul include clasificarea interac\u021biunilor farmacogenetice \u00een:<\/h3>\n
                  \n
                • Risc normal<\/li>\n
                • Utilizare cu precau\u021bie<\/li>\n
                • Risc ridicat<\/li>\n<\/ul>\n

                  Sunt evaluate interac\u021biuni clinice pentru un spectru larg de medicamente, inclusiv:<\/h3>\n
                    \n
                  • anticoagulante (warfarin\u0103, acenocumarol)<\/li>\n
                  • antiaritmice \u0219i cardiovasculare (metoprolol, propafenon\u0103)<\/li>\n
                  • psihotrope (antidepresive, antipsihotice)<\/li>\n
                  • oncologice (capecitabin\u0103, fluorouracil, irinotecan, tamoxifen)<\/li>\n
                  • analgezice (codein\u0103, tramadol, AINS)<\/li>\n
                  • antiinfec\u021bioase (efavirenz, voriconazol)<\/li>\n
                  • imunosupresoare (tacrolimus, azatioprin\u0103)<\/li>\n
                  • anestezice \u0219i relaxante musculare<\/li>\n
                  • numeroase alte clase terapeutice<\/li>\n<\/ul>\n

                    Fiecare medicament este asociat cu niveluri de relevan\u021b\u0103 farmacogenetic\u0103:<\/h3>\n
                      \n
                    • (4) obligatoriu<\/li>\n
                    • (3) recomandat<\/li>\n
                    • (2) aplicabil<\/li>\n
                    • (1) informativ<\/li>\n<\/ul>\n

                      Indica\u021bii de testare<\/h3>\n
                        \n
                      • Reac\u021bii adverse medicamentoase severe sau recurente<\/li>\n
                      • E\u0219ec terapeutic la tratamente standard<\/li>\n
                      • Polifarmacie (tratament cronic multiplu)<\/li>\n
                      • Ini\u021biere tratament oncologic, psihiatric sau cardiovascular<\/li>\n
                      • Terapie cu fereastr\u0103 terapeutic\u0103 \u00eengust\u0103<\/li>\n
                      • Personalizarea complet\u0103 a tratamentului medicamentos<\/li>\n
                      • Istoric familial de toxicitate medicamentoas\u0103<\/li>\n<\/ul>\n

                        Cui se adreseaz\u0103<\/h3>\n
                          \n
                        • Pacien\u021bilor oncologici \u0219i hematologici<\/li>\n
                        • Pacien\u021bilor cu boli cronice cardiovasculare sau neurologice<\/li>\n
                        • Pacien\u021bilor cu tratamente multiple<\/li>\n
                        • Medicilor oncologi, cardiologilor, psihiatrilor, interni\u0219tilor<\/li>\n
                        • Speciali\u0219tilor \u00een farmacologie clinic\u0103 \u0219i medicin\u0103 personalizat\u0103<\/li>\n<\/ul>\n

                          Metodologie de testare<\/h3>\n
                            \n
                          • Extrac\u021bie ADN din s\u00e2nge periferic (EDTA)<\/li>\n
                          • Secven\u021biere exomic\u0103 (NGS \u2013 Illumina NovaSeq 6000)<\/li>\n
                          • Analiz\u0103 bioinformatic\u0103 pe genom de referin\u021b\u0103 Hg38<\/li>\n
                          • Identificare:\n
                              \n
                            • SNV (single nucleotide variants)<\/li>\n
                            • Indel-uri<\/li>\n
                            • CNV (copy number variants)<\/li>\n<\/ul>\n<\/li>\n
                            • Integrare farmacogenomic\u0103 prin platforma SONOGENE CE-IVD<\/li>\n
                            • Validare suplimentar\u0103 prin Sanger \/ Snapshot dac\u0103 este necesar<\/li>\n<\/ul>\n

                              Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n
                                \n
                              • Profil farmacogenetic complet pe baza exomului<\/li>\n
                              • Reduce riscul de reac\u021bii adverse medicamentoase severe<\/li>\n
                              • Optimizeaz\u0103 eficien\u021ba tratamentelor<\/li>\n
                              • Permite personalizarea precis\u0103 a dozelor<\/li>\n
                              • Sus\u021bine deciziile clinice \u00een medicina de precizie<\/li>\n
                              • Ofer\u0103 informa\u021bie genetic\u0103 stabil\u0103 pe via\u021b\u0103<\/li>\n
                              • Acoper\u0103 un spectru larg de gene farmacogenetice \u0219i variante rare<\/li>\n<\/ul>\n

                                Analize asociate recomandate<\/h3>\n

                                Farmacogenetic\u0103 cardiovascular\u0103<\/h3>\n
                                  \n
                                • CYP2C9 \/ VKORC1<\/li>\n
                                • CYP4F2<\/li>\n
                                • SLCO1B1<\/li>\n
                                • F2 \/ F5 (risc trombotic)<\/li>\n<\/ul>\n

                                  Farmacogenetic\u0103 oncologic\u0103<\/h3>\n
                                    \n
                                  • DPYD<\/li>\n
                                  • UGT1A1<\/li>\n
                                  • TPMT<\/li>\n
                                  • NUDT15<\/li>\n<\/ul>\n

                                    Farmacogenetic\u0103 neuropsihiatric\u0103<\/h3>\n
                                      \n
                                    • CYP2D6<\/li>\n
                                    • CYP2C19<\/li>\n
                                    • CYP3A4\/5<\/li>\n
                                    • COMT (\u00een func\u021bie de interpretare clinic\u0103)<\/li>\n<\/ul>\n

                                      Alte domenii relevante<\/h3>\n
                                        \n
                                      • Transportori (ABCB1, ABCG2)<\/li>\n
                                      • Metabolizare analgezice (OPRM1, etc. \u00een func\u021bie de panel)<\/li>\n
                                      • G6PD (risc hemoliz\u0103 medicamentoas\u0103)<\/li>\n<\/ul>\n

                                        Prob\u0103 recoltat\u0103 \/ condi\u021bii analiz\u0103<\/h3>\n

                                        S\u00e2nge total EDTA<\/h3>\n
                                          \n
                                        • Nu necesit\u0103 condi\u021bii speciale de recoltare<\/li>\n
                                        • ADN-ul este stabil pentru analiz\u0103 genomic\u0103 extins\u0103<\/li>\n<\/ul>\n

                                          Documente necesare<\/h3>\n
                                            \n
                                          • Recomandare medical\u0103<\/li>\n
                                          • Istoric terapeutic \u0219i clinic<\/li>\n
                                          • Consim\u021b\u0103m\u00e2nt informat pentru testare genetic\u0103<\/li>\n
                                          • Informa\u021bii privind medica\u021bia curent\u0103 (dac\u0103 exist\u0103)<\/li>\n<\/ul>\n

                                            Denumiri alternative<\/h3>\n
                                              \n
                                            • SONOGEN PGx Exome Panel<\/li>\n
                                            • Pharmacogenomic Whole Exome Sequencing<\/li>\n
                                            • Extended Pharmacogenetics NGS test<\/li>\n
                                            • Drug response exome sequencing<\/li>\n
                                            • Comprehensive PGx profiling<\/li>\n
                                            • Pharmacogenetic exome analysis<\/li>\n
                                            • Clinical pharmacogenomics WES<\/li>\n
                                            • Drug\u2013gene interaction exome test<\/li>\n
                                            • Personalized medicine exome panel<\/li>\n
                                            • Whole exome pharmacogenetics SONOGEN<\/li>\n<\/ul>\n

                                              Particularit\u0103\u021bi ale testului<\/h3>\n

                                              Acest test reprezint\u0103 o analiz\u0103 farmacogenetic\u0103 avansat\u0103 bazat\u0103 pe secven\u021biere exomic\u0103 (NGS)<\/strong>, oferind o evaluare extins\u0103 a variantelor genetice implicate \u00een r\u0103spunsul la medicamente. Integrarea datelor SNV, Indel \u0219i CNV permite o acurate\u021be ridicat\u0103 a profilului farmacogenomic. Interpretarea rezultatelor trebuie realizat\u0103 \u00een context clinic \u0219i terapeutic, fiind destinat\u0103 exclusiv medicinei personalizate.<\/p>\n","protected":false},"excerpt":{"rendered":"

                                              Analiz\u0103 farmacogenetic\u0103 extins\u0103 bazat\u0103 pe secven\u021biere exomic\u0103 (NGS)<\/strong>, destinat\u0103 evalu\u0103rii variantelor genetice implicate \u00een metabolizarea, transportul \u0219i r\u0103spunsul la medicamente. Testul permite construirea unui profil complet de medicin\u0103 personalizat\u0103<\/strong>, cu identificarea riscurilor de toxicitate, ineficien\u021b\u0103 sau reac\u021bii adverse medicamentoase.<\/p>\n","protected":false},"featured_media":0,"template":"","meta":{"_acf_changed":false,"inline_featured_image":false},"product_brand":[],"product_cat":[1209,3226,2876],"product_tag":[],"class_list":["post-26814","product","type-product","status-publish","product_cat-analize","product_cat-farmacogenetica-si-farmacogenomica","product_cat-serviciu-laborator","first","instock","sale","virtual","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t\n\t\t