{"id":27041,"date":"2025-06-24T14:38:50","date_gmt":"2025-06-24T12:38:50","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-genetic-dislipidemii\/"},"modified":"2026-02-27T17:56:25","modified_gmt":"2026-02-27T15:56:25","slug":"panel-genetic-dislipidemii","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-genetic-dislipidemii\/","title":{"rendered":"Panel genetic Dislipidemii"},"content":{"rendered":"<p>Dislipidemiile reprezint\u0103 tulbur\u0103ri ale metabolismului lipidic, caracterizate prin valori anormale ale colesterolului, trigliceridelor sau lipoproteinelor. Aceste dezechilibre pot fi primare (genetice) sau secundare (dob\u00e2ndite), \u00eens\u0103 formele genetice joac\u0103 un rol major \u00een predispozi\u021bia la boli cardiovasculare premature.<\/p>\n<\/p>\n<p> Testul NGS permite identificarea muta\u021biilor patogene, probabil patogene sau de semnifica\u021bie incert\u0103 \u00een genele implicate \u00een transportul, sinteza \u0219i catabolismul lipidelor.<\/p>\n<\/p>\n<p><strong>Afectiuni sau simptome asociate<\/strong><\/p>\n<\/p>\n<ul>\n<li>hipercolesterolemie familial\u0103 (monogenic\u0103 sau poligenic\u0103)<\/li>\n<li>hipertrigliceridemie sever\u0103<\/li>\n<li>disbetalipoproteinemie familial\u0103<\/li>\n<li>boala <strong>sitosterolemiei<\/strong><\/li>\n<li>deficien\u021be de apolipoproteine (A1, C2, C3, E)<\/li>\n<li>deficit de lipoprotein-lipaz\u0103<\/li>\n<li>dislipidemii mixte sau rezistente la tratament<\/li>\n<li>predispozi\u021bie genetic\u0103 la ateroscleroz\u0103 precoce \u0219i boli coronariene premature<\/li>\n<\/ul>\n<p><strong>Cui se adreseaz\u0103<\/strong><\/p>\n<\/p>\n<p> Testul este recomandat:<\/p>\n<\/p>\n<ul>\n<li>persoanelor cu valori crescute ale colesterolului LDL sau trigliceridelor, neexplicate prin diet\u0103 sau stil de via\u021b\u0103<\/li>\n<li>pacien\u021bilor cu istoric familial de infarct miocardic precoce sau moarte subit\u0103<\/li>\n<li>persoanelor cu r\u0103spuns neobi\u0219nuit la tratamente <strong>hipolipemiante<\/strong> (statine, fibrate, ezetimib)<\/li>\n<li>copiilor cu suspiciune de hipercolesterolemie familial\u0103 homozigot\u0103\/heterozigot\u0103<\/li>\n<li>familiilor unde s-a confirmat o muta\u021bie cauzatoare de dislipidemie<\/li>\n<\/ul>\n<p><strong>Metodologie de testare<\/strong><\/p>\n<\/p>\n<p>Analiza se realizeaz\u0103 prin secven\u021biere de nou\u0103 genera\u021bie (NGS), care permite detectarea variantelor genetice punctiforme, dele\u021biilor sau inser\u021biilor \u00een regiunile codante \u0219i zonele adiacente intron-<strong>e<\/strong>xon ale genelor analizate.<\/p>\n<\/p>\n<p> Confirmarea variantelor clinice relevante se efectueaz\u0103 prin <strong>Sanger<\/strong> sequencing, dac\u0103 este necesar.<\/p>\n<\/p>\n<p><strong>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<\/p>\n<ul>\n<li>identificarea cauzei genetice a dislipidemiei permite personalizarea tratamentului (de exemplu, eligibilitate pentru terapii cu inhibitori <strong>PCSK9<\/strong>)<\/li>\n<li>ofer\u0103 informa\u021bii utile pentru screening familial \u0219i consiliere genetic\u0103<\/li>\n<li>permite stratificarea riscului cardiovascular \u0219i stabilirea precoce a interven\u021biilor terapeutice \u0219i preventive<\/li>\n<li>ajut\u0103 la diferen\u021bierea formelor monogenice de cele multifactoriale, optimiz\u00e2nd conduita medical\u0103<\/li>\n<\/ul>\n<p><strong>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<\/p>\n<ul>\n<li>testul detecteaz\u0103 variantele punctiforme \u0219i dele\u021biile\/inser\u021biile mici, dar nu poate identifica rearanjamente cromozomiale mari sau varia\u021bii de num\u0103r de copii (CNV) \u00een afara regiunilor analizate<\/li>\n<li>rezultatele trebuie interpretate \u00een context clinic \u0219i biochimic<\/li>\n<li>unele variante pot fi raportate ca VUS (variant of uncertain significance) \u0219i necesit\u0103 reevaluare ulterioar\u0103<\/li>\n<\/ul>\n<p><strong>Recoltare \u0219i condi\u021bii de transport<\/strong><\/p>\n<\/p>\n<ul>\n<li>recoltarea se face \u00een vacutainer cu EDTA<\/li>\n<li>nu este necesar\u0103 condi\u021bie special\u0103 de post<\/li>\n<\/ul>\n<p><strong>Analize asociate recomandate<\/strong><\/p>\n<\/p>\n<ul>\n<li>lipidogram\u0103 complet\u0103 (colesterol total, LDL, HDL, trigliceride)<\/li>\n<li>Lp(a) \u2013 lipoproteina (a)<\/li>\n<li>apolipoproteine A1, B<\/li>\n<li>test genetic pentru trombofilie (pentru evaluarea riscului cardiovascular global)<\/li>\n<li>secven\u021biere familial\u0103 \u021bintit\u0103, dac\u0103 se identific\u0103 o variant\u0103 patogen\u0103<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p><strong>Panelul genetic pentru dislipidemii <\/strong>analizeaz\u0103 20 de gene implicate \u00een metabolismul lipidelor \u0219i al lipoproteinelor, acoperind principalele cauze genetice ale hipercolesterolemiei, hipertrigliceridemiei \u0219i hipolipidemiei.<\/p>\n<\/p>\n<p>Dislipidemiile sunt tulbur\u0103ri \u00een care nivelurile de colesterol sau trigliceride sunt prea mari sau prea mici, iar acest dezechilibru poate cre\u0219te riscul de probleme cardiovasculare. Formele ereditare pot ap\u0103rea chiar \u0219i la persoane cu stil de via\u021b\u0103 s\u0103n\u0103tos, deoarece organismul proceseaz\u0103 lipidele diferit din cauza unei modific\u0103ri genetice.<\/p>\n<\/p>\n<p><strong>Genele analizate includ:<\/strong><\/p>\n<\/p>\n<p> ABCA1, ABCG5, ABCG8, ALMS1, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CREB3L3, CYP27A1, GPD1, GPIHBP1, LDLR, LDLRAP1, LIPA, LMF1, LPL, PCSK9.<\/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-27041","1":"product","2":"type-product","3":"status-publish","5":"product_cat-analize","6":"product_cat-diagnostic-genetic","7":"product_cat-serviciu-laborator","8":"pa_conditii-medicale-afecti-dislipidemie","10":"first","11":"instock","12":"sale","13":"virtual","14":"purchasable","15":"product-type-simple"},"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product\/27041","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=27041"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_brand?post=27041"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_cat?post=27041"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/www.clinica-sante.com\/ro\/wp-json\/wp\/v2\/product_tag?post=27041"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}