{"id":27167,"date":"2025-06-24T15:46:01","date_gmt":"2025-06-24T12:46:01","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/analiza-genei-pkd1-secventiere-ngs-lr-pcr\/"},"modified":"2026-06-26T20:01:13","modified_gmt":"2026-06-26T17:01:13","slug":"analiza-genei-pkd1-secventiere-ngs-lr-pcr","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/analiza-genei-pkd1-secventiere-ngs-lr-pcr\/","title":{"rendered":"Analiza genei PKD1- Boala polichistica renala autozomal dominanta (secventiere NGS + LR-PCR)"},"content":{"rendered":"<p>Analiza are rol esen\u021bial \u00een confirmarea diagnosticului, evaluarea prognosticului \u0219i consilierea genetic\u0103 familial\u0103 \u00een ADPKD.<\/p>\n<h3>Termen de execu\u021bie*<\/h3>\n<p>45\u201355 zile lucr\u0103toare<\/p>\n<h3>Despre analiza genei PKD1 \u2013 ADPKD (NGS + LR-PCR)<\/h3>\n<p>Gena <strong>PKD1<\/strong>, localizat\u0103 pe cromozomul 16p13.3, codific\u0103 proteina policistina-1, implicat\u0103 \u00een reglarea prolifer\u0103rii celulare \u0219i a structurii tubulare renale. Muta\u021biile \u00een PKD1 sunt responsabile de aproximativ <strong>85% din cazurile de ADPKD<\/strong>, av\u00e2nd un impact major asupra severit\u0103\u021bii \u0219i progresiei bolii.<\/p>\n<p>Analiza PKD1 este tehnic dificil\u0103 din cauza existen\u021bei a multiple pseudogene cu omologie ridicat\u0103, ceea ce poate genera erori de aliniere \u00een secven\u021bierea standard. Pentru a dep\u0103\u0219i aceste limit\u0103ri, testul utilizeaz\u0103:<\/p>\n<ul>\n<li><strong>LR-PCR (Long-Range PCR)<\/strong> pentru amplificarea specific\u0103 a regiunilor PKD1 autentice<\/li>\n<li><strong>secven\u021biere NGS<\/strong> pentru detectarea variantelor punctiforme \u0219i a micilor inser\u021bii\/dele\u021bii<\/li>\n<li>analiz\u0103 bioinformatic\u0103 avansat\u0103 pentru diferen\u021bierea variantelor reale de artefacte<\/li>\n<\/ul>\n<p>Aceast\u0103 abordare permite o acurate\u021be crescut\u0103 \u00een identificarea variantelor patogene chiar \u0219i \u00een regiunile complexe ale genei.<\/p>\n<h3>Afec\u021biuni sau simptome asociate<\/h3>\n<h3>Testul este indicat \u00een evaluarea:<\/h3>\n<ul>\n<li>bolii polichistice renale autozomal dominante (ADPKD)<\/li>\n<li>insuficien\u021bei renale cronice de etiologie genetic\u0103 suspectat\u0103<\/li>\n<li>rinichilor m\u0103ri\u021bi bilateral cu multiple chisturi<\/li>\n<li>hipertensiunii arteriale precoce asociate afect\u0103rii renale<\/li>\n<li>hematuriei persistente sau episodice<\/li>\n<li>dureri lombare cronice cu suspiciune de ADPKD<\/li>\n<li>aneurismelor intracraniene asociate ADPKD<\/li>\n<li>istoric familial de boal\u0103 polichistic\u0103 renal\u0103<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>pacien\u021bilor cu suspiciune clinic\u0103 sau imagistic\u0103 de ADPKD<\/li>\n<li>pacien\u021bilor cu diagnostic imagistic incert sau incomplet<\/li>\n<li>persoanelor cu insuficien\u021b\u0103 renal\u0103 progresiv\u0103 f\u0103r\u0103 cauz\u0103 clar\u0103<\/li>\n<li>pacien\u021bilor cu istoric familial de ADPKD<\/li>\n<li>rudelor de gradul I ale pacien\u021bilor diagnostica\u021bi<\/li>\n<li>pacien\u021bilor evalua\u021bi pentru transplant renal sau planificare terapeutic\u0103<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<ul>\n<li>extrac\u021bie ADN genomic din s\u00e2nge periferic EDTA<\/li>\n<li>amplificare specific\u0103 prin <strong>Long-Range PCR (LR-PCR)<\/strong> a regiunilor PKD1<\/li>\n<li>secven\u021biere de nou\u0103 genera\u021bie (NGS) a fragmentelor amplificate<\/li>\n<li>analiz\u0103 bioinformatic\u0103 pentru diferen\u021bierea PKD1 de pseudogene<\/li>\n<li>identificarea variantelor:\n<ul>\n<li>SNV (single nucleotide variants)<\/li>\n<li>INDEL (inser\u021bii\/dele\u021bii mici)<\/li>\n<li>variante patogene sau probabil patogene<\/li>\n<\/ul>\n<\/li>\n<li>corelare cu datele clinice \u0219i fenotipul reno-urinar<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>confirm\u0103 diagnosticul molecular al ADPKD<\/li>\n<li>permite identificarea precoce a formelor genetice chiar \u00eenainte de simptome severe<\/li>\n<li>ajut\u0103 la estimarea prognosticului (riscul de progresie spre insuficien\u021b\u0103 renal\u0103)<\/li>\n<li>faciliteaz\u0103 consilierea genetic\u0103 familial\u0103 \u0219i testarea rudelor<\/li>\n<li>contribuie la luarea deciziilor terapeutice \u0219i monitorizarea pe termen lung<\/li>\n<li>\u00eembun\u0103t\u0103\u021be\u0219te acurate\u021bea diagnostic\u0103 \u00een cazurile dificile din punct de vedere imagistic<\/li>\n<li>reduce necesitatea investiga\u021biilor repetitive<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n<ul>\n<li>analiza este complex\u0103 din cauza existen\u021bei pseudogenelor PKD1<\/li>\n<li>pot exista variante cu semnifica\u021bie incert\u0103 (VUS)<\/li>\n<li>nu toate tipurile de rearanjamente genomice mari pot fi detectate<\/li>\n<li>rezultatul trebuie corelat cu ecografia sau RMN-ul renal \u0219i cu istoricul familial<\/li>\n<li>un rezultat negativ nu exclude complet ADPKD (posibila implicare a genei PKD2 sau a altor gene)<\/li>\n<li>interpretarea necesit\u0103 corelare clinic\u0103 \u0219i genetic\u0103 specializat\u0103<\/li>\n<\/ul>\n<h3>Tip prob\u0103 \u0219i condi\u021bii de recoltare<\/h3>\n<h3>Prob\u0103 necesar\u0103:<\/h3>\n<ul>\n<li>s\u00e2nge integral EDTA<\/li>\n<\/ul>\n<h3>Volum recomandat:<\/h3>\n<ul>\n<li>2 \u00d7 6 ml s\u00e2nge periferic<\/li>\n<\/ul>\n<h3>Condi\u021bii de recoltare:<\/h3>\n<ul>\n<li>recoltare prin punc\u021bie venoas\u0103 standard \u00een vacutainer cu EDTA<\/li>\n<li>transport \u00een condi\u021bii controlate conform protocolului laboratorului<\/li>\n<li>nu necesit\u0103 preg\u0103tire special\u0103<\/li>\n<li>recomandat\u0103 completarea anamnezei clinice \u0219i familiale<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<ul>\n<li><strong>Analiza PKD2 (ADPKD)<\/strong> \u2013 completare diagnostic genetic<\/li>\n<li><strong>Panel NGS boli renale ereditare<\/strong> \u2013 diferen\u021biere diagnostic\u0103 extins\u0103<\/li>\n<li><strong>MLPA PKD1\/PKD2<\/strong> \u2013 detec\u021bia dele\u021biilor\/duplica\u021biilor mari<\/li>\n<li><strong>Ecografie renal\u0103 \/ RMN renal<\/strong> \u2013 evaluare structural\u0103 \u0219i stadializare<\/li>\n<li><strong>Test genetic familial ADPKD<\/strong> \u2013 screening rude grad I<\/li>\n<li><strong>Evaluare neurologic\u0103 (anevrisme intracraniene)<\/strong> \u2013 \u00een cazuri selectate<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p><strong>Analiza genei PKD1<\/strong> este un test genetic complex bazat pe secven\u021biere de nou\u0103 genera\u021bie (NGS) combinat\u0103 cu tehnica LR-PCR (Long-Range PCR), utilizat pentru identificarea variantelor patogene \u00een gena <strong>PKD1<\/strong>, responsabil\u0103 de majoritatea cazurilor de <strong>boal\u0103 polichistic\u0103 renal\u0103 autozomal dominant\u0103 (ADPKD)<\/strong>. Testul este proiectat pentru a dep\u0103\u0219i dificult\u0103\u021bile tehnice specifice genei PKD1, inclusiv prezen\u021ba pseudogenelor \u0219i regiunilor genomice cu omologie ridicat\u0103.<\/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-27167","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 5.0.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Analiza genei PKD1 este un test genetic complex bazat pe secven\u021biere de nou\u0103 genera\u021bie (NGS) combinat\u0103 cu tehnica LR-PCR (Long-Range PCR), utilizat pentru identificarea variantelor patogene \u00een gena PKD1, responsabil\u0103 de majoritatea cazurilor de boal\u0103 polichistic\u0103 renal\u0103 autozomal dominant\u0103 (ADPKD). Testul este proiectat pentru a dep\u0103\u0219i dificult\u0103\u021bile tehnice specifice genei PKD1, inclusiv prezen\u021ba pseudogenelor \u0219i regiunilor genomice cu omologie ridicat\u0103.\" \/>\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\/analiza-genei-pkd1-secventiere-ngs-lr-pcr\/\" \/>\n\t<meta name=\"generator\" content=\"All in One SEO Pro (AIOSEO) 5.0.0.1\" \/>\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=\"Analiza genei PKD1- Boala polichistica renala autozomal dominanta (secventiere NGS + LR-PCR) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta property=\"og:description\" content=\"Analiza genei PKD1 este un test genetic complex bazat pe secven\u021biere de nou\u0103 genera\u021bie (NGS) combinat\u0103 cu tehnica LR-PCR (Long-Range PCR), utilizat pentru identificarea variantelor patogene \u00een gena PKD1, responsabil\u0103 de majoritatea cazurilor de boal\u0103 polichistic\u0103 renal\u0103 autozomal dominant\u0103 (ADPKD). Testul este proiectat pentru a dep\u0103\u0219i dificult\u0103\u021bile tehnice specifice genei PKD1, inclusiv prezen\u021ba pseudogenelor \u0219i regiunilor genomice cu omologie ridicat\u0103.\" \/>\n\t\t<meta property=\"og:url\" content=\"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/analiza-genei-pkd1-secventiere-ngs-lr-pcr\/\" \/>\n\t\t<meta property=\"article:published_time\" content=\"2025-06-24T12:46:01+00:00\" \/>\n\t\t<meta property=\"article:modified_time\" content=\"2026-06-26T17:01:13+00:00\" \/>\n\t\t<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n\t\t<meta name=\"twitter:title\" content=\"Analiza genei PKD1- Boala polichistica renala autozomal dominanta (secventiere NGS + LR-PCR) - Clinica Sante - Laborator de Analize Medicale\" \/>\n\t\t<meta name=\"twitter:description\" content=\"Analiza genei PKD1 este un test genetic complex bazat pe secven\u021biere de nou\u0103 genera\u021bie (NGS) combinat\u0103 cu tehnica LR-PCR (Long-Range PCR), utilizat pentru identificarea variantelor patogene \u00een gena PKD1, responsabil\u0103 de majoritatea cazurilor de boal\u0103 polichistic\u0103 renal\u0103 autozomal dominant\u0103 (ADPKD). Testul este proiectat pentru a dep\u0103\u0219i dificult\u0103\u021bile tehnice specifice genei PKD1, inclusiv prezen\u021ba pseudogenelor \u0219i regiunilor genomice cu omologie ridicat\u0103.\" \/>\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\\\/analiza-genei-pkd1-secventiere-ngs-lr-pcr\\\/#breadcrumblist\",\"itemListElement\":[{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro#listItem\",\"position\":1,\"name\":\"Prima pagin\\u0103\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/#listItem\",\"name\":\"Analize Medicale\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/#listItem\",\"position\":2,\"name\":\"Analize Medicale\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/#listItem\",\"name\":\"Analize\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro#listItem\",\"name\":\"Prima pagin\\u0103\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/#listItem\",\"position\":3,\"name\":\"Analize\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/#listItem\",\"name\":\"Serviciu laborator\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-medicale\\\/#listItem\",\"name\":\"Analize Medicale\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/#listItem\",\"position\":4,\"name\":\"Serviciu laborator\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/#listItem\",\"name\":\"Diagnostic genetic\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize\\\/#listItem\",\"name\":\"Analize\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/#listItem\",\"position\":5,\"name\":\"Diagnostic genetic\",\"item\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/\",\"nextItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/analiza-genei-pkd1-secventiere-ngs-lr-pcr\\\/#listItem\",\"name\":\"Analiza genei PKD1- Boala polichistica renala autozomal dominanta (secventiere NGS + LR-PCR)\"},\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-serviciu-laborator\\\/#listItem\",\"name\":\"Serviciu laborator\"}},{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/analiza-genei-pkd1-secventiere-ngs-lr-pcr\\\/#listItem\",\"position\":6,\"name\":\"Analiza genei PKD1- Boala polichistica renala autozomal dominanta (secventiere NGS + LR-PCR)\",\"previousItem\":{\"@type\":\"ListItem\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/analize-diagnostic-genetic\\\/#listItem\",\"name\":\"Diagnostic genetic\"}}]},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/www.clinica-sante.com\\\/ro\\\/#organization\",\"name\":\"Clinica Sante - 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