{"id":27671,"date":"2025-06-24T15:48:17","date_gmt":"2025-06-24T13:48:17","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-genetic-displazii-osoase-boli-scheletale\/"},"modified":"2026-02-27T18:05:14","modified_gmt":"2026-02-27T16:05:14","slug":"panel-genetic-displazii-osoase-boli-scheletale","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-genetic-displazii-osoase-boli-scheletale\/","title":{"rendered":"Panel genetic Displazii osoase\/boli scheletale"},"content":{"rendered":"<p><strong>Displaziile osoase<\/strong> reprezint\u0103 un grup heterogen de afec\u021biuni genetice care afecteaz\u0103 dezvoltarea oaselor \u0219i a cartilajelor, cu manifest\u0103ri variind de la forme u\u0219oare, cu \u00een\u0103l\u021bime redus\u0103 \u0219i deform\u0103ri minore, p\u00e2n\u0103 la forme severe compatibile cu dizabilitate sau mortalitate crescut\u0103.<\/p>\n<\/p>\n<p>Panelul NGS permite diagnostic molecular precis, facilit\u00e2nd planificarea managementului clinic, consilierea genetic\u0103 \u0219i preven\u021bia complica\u021biilor.<\/p>\n<\/p>\n<p><strong>Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>torsiuni sau deform\u0103ri scheletale congenitale<\/li>\n<li>scolioz\u0103, cifoz\u0103 sau lordoz\u0103 anormal\u0103<\/li>\n<li>\u00een\u0103l\u021bime mic\u0103 sau cre\u0219tere \u00eent\u00e2rziat\u0103<\/li>\n<li>hipoplazie sau malforma\u021bii ale membrelor<\/li>\n<li>fragilitate osoas\u0103 \u0219i fracturi frecvente<\/li>\n<li>probleme de articula\u021bii \u0219i cartilaje<\/li>\n<li>tulbur\u0103ri asociate dezvolt\u0103rii craniofaciale sau vertebrale<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>pacien\u021bi cu suspect de displazie osoas\u0103 sau boli scheletale ereditare<\/li>\n<li>copii \u0219i adul\u021bi cu cre\u0219tere anormal\u0103 sau deform\u0103ri osoase<\/li>\n<li>familii cu istoric de boli scheletale congenitale<\/li>\n<li>clinicieni specializa\u021bi \u00een genetic\u0103 medical\u0103, ortopedie, pediatrie sau endocrinologie<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<ul>\n<li>secven\u021biere de nou\u0103 genera\u021bie (NGS) acoperind exoni, introni adiacen\u021bi \u0219i regiuni critice de reglare<\/li>\n<li>detecteaz\u0103 variante punctiforme, inser\u021bii, dele\u021bii mici<\/li>\n<\/ul>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>diagnostic molecular precoce \u0219i precis al displaziilor osoase<\/li>\n<li>ofer\u0103 ghid pentru managementul clinic individualizat<\/li>\n<li>permite consiliere genetic\u0103 familial\u0103 \u0219i screening prenatal<\/li>\n<li>ajut\u0103 la prevenirea complica\u021biilor ortopedice \u0219i a tulbur\u0103rilor asociate<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>nu detecteaz\u0103 anomalii cromozomiale mari sau epimuta\u021bii<\/li>\n<li>variantelor de semnifica\u021bie incert\u0103 (VUS) li se recomand\u0103 reevaluare periodic\u0103 \u0219i corelare cu fenotipul pacientului<\/li>\n<li>panelul ofer\u0103 predispozi\u021bie genetic\u0103, nu severitatea clinic\u0103 exact\u0103<\/li>\n<\/ul>\n<p><strong>Recoltare \u0219i condi\u021bii<\/strong><\/p>\n<\/p>\n<ul>\n<li>s\u00e2ngele se recolteaz\u0103 \u00een vacutainer cu EDTA<\/li>\n<li>nu sunt necesare condi\u021bii speciale de post<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>radiografie \u0219i RMN scheletic pentru corelarea fenotip-molecul\u0103<\/li>\n<li>evaluare endocrinologic\u0103 pentru cre\u0219tere \u0219i metabolism osos<\/li>\n<li>panel genetic familial pentru rudele apropiate<\/li>\n<li>teste complementare pentru tulbur\u0103ri metabolice asociate (ex. ALPL, PHEX)<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Acest panel NGS permite analiza simultan\u0103 a 72 de gene asociate cu displazii osoase \u0219i boli scheletale. Displaziile osoase sunt boli ereditare \u00een care oasele \u0219i cartilajele nu se dezvolt\u0103 normal. Pot duce la statur\u0103 mai mic\u0103, forme atipice ale bra\u021belor, picioarelor sau coloanei \u0219i o fragilitate crescut\u0103 a oaselor. \u00cen unele cazuri, pot afecta \u0219i forma fe\u021bei, modul \u00een care cresc articula\u021biile sau felul \u00een care se dezvolt\u0103 coloana vertebral\u0103.<\/p>\n<\/p>\n<p>Testul identific\u0103 variante genetice responsabile pentru aceste afec\u021biuni congenitale sau ereditare ale oaselor \u0219i cartilajelor.<\/p>\n<\/p>\n<p><strong>Genele incluse<\/strong><\/p>\n<\/p>\n<p> AGPS, ALPL, ASCC1, CEP120, CFAP410, CHUK, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, CREB3L1, CRTAP, CSPP1, DLL1, DLL3, DMRT2, DYNC2H1, DYNC2LI1, EBP, EVC, EVC2, FAM111A, FGFR2, FGFR3, GNPAT, GPX4, HES7, HSPG2, ICK, IFT122, IFT140, IFT172, IFT43, IFT52, IFT74, IFT80, IFT81, IMPAD1, INPPL1, INTU, KIAA0586, KIAA0753, LBR, LFNG, LRP5, MBTPS2, MESP2, NEK1, P3H1, PAM16, PEX5, PEX7, PPIB, RIPPLY2, SLC26A2, SLC35D1, SOX9, TBX6, TCTEX1D2, TMEM38B, TRAF3IP1, TRIP11, TRIP4, TRPV4, TTC21B, WDR19, WDR34, WDR35, WDR60, WNT1, WNT3<\/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":{"0":"post-27671","1":"product","2":"type-product","3":"status-publish","5":"product_cat-analize","6":"product_cat-diagnostic-genetic","7":"product_cat-serviciu-laborator","9":"first","10":"instock","11":"sale","12":"virtual","13":"purchasable","14":"product-type-simple"},"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/27671","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/types\/product"}],"wp:attachment":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/media?parent=27671"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27671"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27671"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27671"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}