{"id":27674,"date":"2025-06-24T16:48:26","date_gmt":"2025-06-24T13:48:26","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize-fara-categorie\/panel-genetic-anemie-si-boli-ce-asociaza-aplazie-medulara-bone-marrow-failure-anemia-panel\/"},"modified":"2026-07-02T12:16:20","modified_gmt":"2026-07-02T09:16:20","slug":"panel-genetic-anemie-si-boli-ce-asociaza-aplazie-medulara-bone-marrow-failure-anemia-panel","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/panel-genetic-anemie-si-boli-ce-asociaza-aplazie-medulara-bone-marrow-failure-anemia-panel\/","title":{"rendered":"Panel genetic Anemie si boli ce asociaza aplazie medulara &#8211; Bone marrow failure \/ Anemia panel"},"content":{"rendered":"<p>Anemiile ereditare \u0219i sindroamele de insuficien\u021b\u0103 medular\u0103 reprezint\u0103 un grup complex de afec\u021biuni genetice caracterizate prin produc\u021bie insuficient\u0103 sau defectuoas\u0103 a celulelor sanguine la nivelul m\u0103duvei osoase. Acestea includ anemii congenitale, aplazii medulare, sindroame de fragilitate genomic\u0103, tulbur\u0103ri ale diferen\u021bierii hematopoietice \u0219i boli sindromice cu afectare multisistemic\u0103.<\/p>\n<h3>Panelul investigheaz\u0103 gene implicate \u00een:<\/h3>\n<ul>\n<li>hematopoieza \u0219i diferen\u021bierea celulelor stem hematopoietice<\/li>\n<li>repararea ADN-ului \u0219i stabilitatea genomic\u0103<\/li>\n<li>func\u021bia telomerelor \u0219i sindroame de \u00eemb\u0103tr\u00e2nire prematur\u0103 medular\u0103<\/li>\n<li>eritropoiez\u0103 \u0219i metabolismul hemoglobinei<\/li>\n<li>func\u021bia trombocitar\u0103 \u0219i coagularea<\/li>\n<li>imunitate \u0219i reglarea inflama\u021biei<\/li>\n<li>metabolismul fierului \u0219i transportul membranar<\/li>\n<\/ul>\n<p>Identificarea variantelor genetice permite stabilirea etiologiei citopeniilor \u0219i ghidarea tratamentului personalizat.<\/p>\n<h3>Afec\u021biuni sau simptome asociate<\/h3>\n<ul>\n<li>anemie cronic\u0103 sau sever\u0103 (microcitar\u0103, macrocitar\u0103 sau normocitar\u0103)<\/li>\n<li>pancitopenie sau citopenii izolate persistente<\/li>\n<li>aplazie medular\u0103 congenital\u0103 sau dob\u00e2ndit\u0103<\/li>\n<li>trombocitopenie sau trombocitopatii ereditare<\/li>\n<li>neutropenie sever\u0103 sau recurent\u0103<\/li>\n<li>infec\u021bii frecvente sau severe<\/li>\n<li>hemoragii spontane sau post-traumatice<\/li>\n<li>\u00eent\u00e2rziere de cre\u0219tere \u0219i dezvoltare<\/li>\n<li>hepatosplenomegalie<\/li>\n<li>semne de insuficien\u021b\u0103 medular\u0103 progresiv\u0103<\/li>\n<\/ul>\n<h3>Cui se adreseaz\u0103<\/h3>\n<ul>\n<li>pacien\u021bilor cu citopenii inexplicabile sau persistente<\/li>\n<li>copiilor cu anemie sever\u0103 sau pancitopenie precoce<\/li>\n<li>pacien\u021bilor cu suspiciune de aplazie medular\u0103 congenital\u0103<\/li>\n<li>cazurilor de trombocitopenie ereditar\u0103 sau sindroame hemoragice<\/li>\n<li>pacien\u021bilor cu suspiciune de sindroame de fragilitate cromozomial\u0103<\/li>\n<li>familiilor cu istoric de boli hematologice ereditare<\/li>\n<li>clinicienilor care necesit\u0103 confirmare genetic\u0103 \u0219i consiliere familial\u0103<\/li>\n<\/ul>\n<h3>Metodologie de testare<\/h3>\n<ul>\n<li>secven\u021biere NGS (Next Generation Sequencing)<\/li>\n<li>analiz\u0103 complet\u0103 exon-intron pentru genele incluse<\/li>\n<li>detectarea variantelor punctiforme, dele\u021biilor \u0219i inser\u021biilor<\/li>\n<li>analiz\u0103 bioinformatic\u0103 avansat\u0103 \u0219i interpretare conform ghidurilor interna\u021bionale<\/li>\n<li>raportare integrat\u0103 clinico-genetic\u0103<\/li>\n<\/ul>\n<h3>Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/h3>\n<ul>\n<li>identific\u0103 cauze genetice ale anemiilor \u0219i aplaziei medulare<\/li>\n<li>permite diagnostic precoce \u00een forme severe pediatrice sau familiale<\/li>\n<li>ghideaz\u0103 decizii terapeutice (transfuzional, transplant medular, terapii \u021bintite)<\/li>\n<li>ajut\u0103 la stratificarea riscului hematologic \u0219i oncologic<\/li>\n<li>permite consiliere genetic\u0103 \u0219i screening familial<\/li>\n<li>diferen\u021biaz\u0103 bolile primare de cele secundare (nutri\u021bionale, autoimune sau toxice)<\/li>\n<\/ul>\n<h3>Particularit\u0103\u021bi \u0219i limit\u0103ri<\/h3>\n<ul>\n<li>nu detecteaz\u0103 cauze dob\u00e2ndite (autoimune, infec\u021bioase, toxice, medicamentoase)<\/li>\n<li>nu exclude complet existen\u021ba altor gene neincluse \u00een panel<\/li>\n<li>pot fi identificate variante cu semnifica\u021bie incert\u0103 (VUS)<\/li>\n<li>rezultatele necesit\u0103 corelare strict\u0103 cu tabloul clinic \u0219i hematologic<\/li>\n<\/ul>\n<h3>Tip de prob\u0103<\/h3>\n<p>s\u00e2nge periferic (EDTA) \u2013 2 \u00d7 6 ml<\/p>\n<h3>Recoltare \u0219i condi\u021bii<\/h3>\n<ul>\n<li>recoltare \u00een vacutainer EDTA<\/li>\n<li>nu necesit\u0103 condi\u021bii de post alimentar<\/li>\n<\/ul>\n<h3>Denumiri alternative<\/h3>\n<ul>\n<li>Panel genetic aplazie medular\u0103 \u0219i anemii ereditare<\/li>\n<li>Test NGS pentru insuficien\u021b\u0103 medular\u0103 congenital\u0103<\/li>\n<li>Screening genetic citopenii ereditare<\/li>\n<li>Panel boli hematologice genetice rare<\/li>\n<li>Test genetic anemie \u0219i tulbur\u0103ri de hematopoiez\u0103<\/li>\n<\/ul>\n<h3>Analize asociate recomandate<\/h3>\n<ul>\n<li>hemoleucogram\u0103 complet\u0103 cu formul\u0103 leucocitar\u0103<\/li>\n<li>frotiu de s\u00e2nge periferic<\/li>\n<li>reticulocite<\/li>\n<li>feritin\u0103, fier seric, transferrin\u0103<\/li>\n<li>aspirat \u0219i biopsie de m\u0103duv\u0103 osoas\u0103<\/li>\n<li>teste de coagulare<\/li>\n<li>vitamina B12 \u0219i folat<\/li>\n<li>consult hematologic specializat<\/li>\n<li>consiliere genetic\u0103 pre \u0219i post testare<\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>Panelul analizeaz\u0103 un spectru larg de gene implicate \u00een anemii ereditare, insuficien\u021b\u0103 medular\u0103 (aplazie medular\u0103), sindroame de insuficien\u021b\u0103 a m\u0103duvei osoase, trombocitopenii congenitale, tulbur\u0103ri ale eritropoiezei, defecte ale metabolismului fierului \u0219i forme sindromice de anemie cu afectare multisistemic\u0103. Testul permite identificarea cauzelor genetice ale citopeniilor severe sau persistente.<\/p>\n<p><strong>Gene analizate<\/strong><\/p>\n<p>ABCB6, ABCB7, ABCG5, ABCG8, ACD, ACTN1, ADA, ADA2, ADAMTS13, AK1, AK2, ALAS2, ALDOA, AMMECR1, AMN, ANK1, ANKRD26, AP3B1, ATM, ATRX, BLM, BLOC1S3, BRCA1, BRCA2, BRIP1, CASP10, CBL, CBLIF, CD36, CD40LG, CD59, CDAN1, CDC42, CDIN1, CEP152, CHEK2, CLCN7, CLPB, COL4A1, CSF3R, CTC1, CTLA4, CUBN, CXCR4, CYB5R3, CYCS, DHFR, DIAPH1, DKC1, DNAJC21, DTNBP1, EFL1, ELANE, EPB41, EPB42, ERCC4, ETV6, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FCGR2C, FLI1, G6PC3, G6PD, GATA1, GATA2, GCLC, GFI1, GFI1B, GLRX5, GNE, GP1BA, GP1BB, GP9, GPI, GPX1, GSR, GSS, GYPC, HAX1, HBA1, HBA2, HBB, HBD, HFE, HK1, HMOX1, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HSPA9, IKZF1, IL2RG, ITGA2B, ITGB3, ITK, JAGN1, KCNN4, KDM1A, KDSR, KIT, KLF1, KRAS, LIG4, LPIN2, LYST, MECOM, MLH1, MPIG6B, MPL, MRE11, MSH2, MSH6, MTR, MTRR, MYH9, MYSM1, NBEAL2, NBN, NF1, NFKB1, NHP2, NOP10, NRAS, NT5C3A, PALB2, PARN, PC, PDHA1, PDHX, PFKM, PGK1, PIEZO1, PKLR, PLAU, PMS2, PRF1, PTPN11, PUS1, RAB27A, RAC2, RAD51, RAD51C, RBBP8, RBM8A, REN, RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SBDS, SEC23B, SH2D1A, SLC19A2, SLC19A3, SLC25A19, SLC25A38, SLC2A1, SLC35C1, SLC4A1, SLFN14, SLX4, SPTA1, SPTB, SRP72, STAT3, STIM1, STX11, STXBP2, TCN2, TERT, THPO, TINF2, TMPRSS6, TP53, TPI1, TPK1, TRNT1, UBE2T, UNC13D, VPS13B, VPS45, WAS, WNT4, WRAP53, XIAP, XK, XRCC2, YARS2.<\/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-27674","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 - 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