{"id":130024,"date":"2026-09-18T09:03:11","date_gmt":"2026-09-18T06:03:11","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/analize\/distrofie-musculara-facioscapulohumerala-tip-1-fshd1-analiza-moleculara-a-numarului-repetitiilor-d4z4-din-regiunea-cromozomila-4q35\/"},"modified":"2026-09-18T09:03:11","modified_gmt":"2026-09-18T06:03:11","slug":"distrofie-musculara-facioscapulohumerala-tip-1-fshd1-analiza-moleculara-a-numarului-repetitiilor-d4z4-din-regiunea-cromozomila-4q35","status":"publish","type":"product","link":"https:\/\/www.clinica-sante.com\/ro\/analize-diagnostic-genetic\/distrofie-musculara-facioscapulohumerala-tip-1-fshd1-analiza-moleculara-a-numarului-repetitiilor-d4z4-din-regiunea-cromozomila-4q35\/","title":{"rendered":"Distrofie musculara facioscapulohumerala tip 1 (FSHD1) &#8211; analiza moleculara a numarului repetitiilor D4Z4 (din regiunea cromozomila 4q35)"},"content":{"rendered":"<p><strong>1. Descriere general\u0103<\/strong><\/p>\n<p>Distrofia muscular\u0103 facioscapulohumeral\u0103 (FSHD) este o boal\u0103 muscular\u0103 genetic\u0103 progresiv\u0103, caracterizat\u0103 predominant prin afectarea musculaturii faciale, scapulare \u0219i a membrelor superioare, frecvent cu distribu\u021bie asimetric\u0103.<\/p>\n<p>\u00cen FSHD1, mecanismul molecular implic\u0103 reducerea num\u0103rului de unit\u0103\u021bi repetitive D4Z4 din regiunea 4q35. Pentru ca aceast\u0103 modificare s\u0103 fie asociat\u0103 cu FSHD1, este necesar\u0103 prezen\u021ba unui haplotip permisiv 4qA.<\/p>\n<p>Testul investigheaz\u0103 direct configura\u021bia molecular\u0103 relevant\u0103 pentru FSHD1 \u0219i poate contribui la confirmarea diagnosticului genetic la pacien\u021bii cu suspiciune clinic\u0103.<\/p>\n<p><strong>2. Parametrii analiza\u021bi<\/strong><\/p>\n<ul>\n<li>num\u0103rul unit\u0103\u021bilor repetitive D4Z4 din regiunea cromozomial\u0103 4q35;<\/li>\n<li>identificarea unei contrac\u021bii patologice a regiunii D4Z4;<\/li>\n<li>evaluarea regiunii 4q35 \u00een raport cu configura\u021bia genomic\u0103 relevant\u0103 pentru FSHD1;<\/li>\n<li>identificarea haplotipului permisiv 4qA, necesar pentru interpretarea molecular\u0103 a unei contrac\u021bii D4Z4 \u00een FSHD1;<\/li>\n<li>caracterizarea molecular\u0103 a configura\u021biei regiunii subtelomerice 4q35.<\/li>\n<\/ul>\n<p><strong>3. Afec\u021biuni sau simptome asociate<\/strong><\/p>\n<p>Investiga\u021bia este asociat\u0103 \u00een principal cu diagnosticul molecular al:<\/p>\n<p>distrofiei musculare facioscapulohumerale tip 1 (FSHD1).<\/p>\n<p>Poate fi indicat\u0103 \u00een prezen\u021ba unor manifest\u0103ri precum:<\/p>\n<p>&#8211; sl\u0103biciune progresiv\u0103 a musculaturii faciale;<br \/>&#8211; dificult\u0103\u021bi de \u00eenchidere a ochilor sau de realizare a anumitor expresii faciale;<br \/>&#8211; omopla\u021bi proeminen\u021bi (\u201escapula alata\u201d);<br \/>&#8211; sl\u0103biciune a musculaturii centurii scapulare;<br \/>&#8211; dificult\u0103\u021bi la ridicarea bra\u021belor;<br \/>&#8211; afectarea progresiv\u0103 a musculaturii membrelor superioare;<br \/>&#8211; afectare muscular\u0103 asimetric\u0103;<br \/>&#8211; sl\u0103biciune muscular\u0103 cu debut \u00een copil\u0103rie, adolescen\u021b\u0103 sau la adult.<\/p>\n<p>Manifest\u0103rile clinice prezint\u0103 o variabilitate important\u0103, de la forme cu debut precoce \u0219i evolu\u021bie mai sever\u0103 p\u00e2n\u0103 la forme oligosimptomatice sau asimptomatice.<\/p>\n<p><strong>4. Cui se adreseaz\u0103<\/strong><\/p>\n<p>Testul este destinat:<\/p>\n<p>&#8211; pacien\u021bilor cu suspiciune clinic\u0103 de FSHD;<br \/>&#8211; pacien\u021bilor cu fenotip muscular sugestiv pentru FSHD;<br \/>&#8211; pacien\u021bilor cu sl\u0103biciune facio-scapulo-humeral\u0103 progresiv\u0103;<br \/>&#8211; persoanelor cu istoric familial pozitiv pentru FSHD;<br \/>&#8211; persoanelor din familii \u00een care a fost identificat\u0103 o modificare genetic\u0103 asociat\u0103 FSHD1;<br \/>&#8211; persoanelor pentru care medicul genetician sau neurolog consider\u0103 necesar\u0103 confirmarea molecular\u0103 a diagnosticului.<\/p>\n<p><strong>5. Metodologie de testare<\/strong><\/p>\n<p>Analiza se efectueaz\u0103 prin Optical Genome Mapping (OGM) \u2013 mapare genomic\u0103 optic\u0103.<\/p>\n<p>Metoda permite analiza la nivel genomic a unor regiuni complexe \u0219i repetitive \u0219i identificarea modific\u0103rilor structurale, inclusiv a configura\u021biei regiunii D4Z4 din 4q35.<\/p>\n<p>\u00cen cazul FSHD1, analiza urm\u0103re\u0219te identificarea unei contrac\u021bii patologice a regiunii D4Z4 \u0219i evaluarea acesteia \u00een contextul haplotipului permisiv 4qA.<\/p>\n<p><strong>6. Beneficii \u0219i importan\u021b\u0103 clinic\u0103<\/strong><\/p>\n<ul>\n<li>Contribuie la confirmarea molecular\u0103 a diagnosticului de FSHD1 la pacien\u021bii cu suspiciune clinic\u0103.<\/li>\n<li>Permite evaluarea direct\u0103 a modific\u0103rii genetice caracteristice FSHD1.<\/li>\n<li>Poate sus\u021bine diagnosticul diferen\u021bial al formelor de distrofie muscular\u0103 cu manifest\u0103ri clinice similare.<\/li>\n<li>Poate fi util\u0103 pentru evaluarea familial\u0103 \u0219i consilierea genetic\u0103.<\/li>\n<li>Identificarea unei modific\u0103ri moleculare asociate bolii poate permite orientarea investiga\u021biilor \u0219i monitoriz\u0103rii pacientului \u0219i a membrilor familiei, conform recomand\u0103rii specialistului.\n<p>Corela\u021bia genotip\u2013fenotip: \u00een general, un num\u0103r mai mic de unit\u0103\u021bi D4Z4 este asociat cu manifest\u0103ri clinice mai severe. Cu toate acestea, exist\u0103 variabilitate fenotipic\u0103, iar num\u0103rul de repeti\u021bii D4Z4 nu permite singur predic\u021bia exact\u0103 a severit\u0103\u021bii bolii la un anumit pacient.<\/li>\n<\/ul>\n<p><strong>7. Particularit\u0103\u021bi \u0219i limit\u0103ri<\/strong><\/p>\n<ul>\n<li>Diagnosticul FSHD trebuie stabilit prin corelarea rezultatului molecular cu tabloul clinic \u0219i istoricul familial.<\/li>\n<li>Pentru FSHD1, contrac\u021bia D4Z4 trebuie interpretat\u0103 \u00eempreun\u0103 cu statutul haplotipului 4qA permisiv.<\/li>\n<li>Severitatea clinic\u0103 prezint\u0103 variabilitate \u0219i nu poate fi determinat\u0103 exclusiv pe baza num\u0103rului de repeti\u021bii D4Z4.<\/li>\n<li>Un rezultat negativ pentru FSHD1 nu exclude toate formele genetice de FSHD; FSHD2 are un mecanism molecular diferit \u0219i necesit\u0103 investiga\u021bii genetice distincte.<\/li>\n<li>\u00cen situa\u021biile cu rezultate neconcludente sau cu suspiciune clinic\u0103 persistent\u0103, poate fi necesar\u0103 evaluare genetic\u0103 suplimentar\u0103.<\/li>\n<\/ul>\n<p><strong>8. Tip prob\u0103<\/strong><\/p>\n<p>S\u00e2nge venos \u2013 2 eprubete cu EDTA, c\u00e2te 6 mL\/eprubet\u0103.<\/p>\n<p><strong>9. Recoltare \u0219i condi\u021bii<\/strong><\/p>\n<p>Recoltarea se efectueaz\u0103 \u00een 2 eprubete EDTA de 6 mL.<br \/>Probele se recolteaz\u0103 exclusiv \u00een zilele de luni, pentru respectarea condi\u021biilor logistice de procesare \u0219i transport.<br \/>Probele trebuie identificate corespunz\u0103tor \u0219i expediate conform condi\u021biilor stabilite pentru testarea genetic\u0103 molecular\u0103.<br \/>Stabilitatea probei: 3 zile.<br \/>Se recomand\u0103 respectarea strict\u0103 a condi\u021biilor de transport \u0219i a intervalului de stabilitate pentru evitarea compromiterii probei.<\/p>\n<p><strong>10. Denumiri alternative<\/strong><\/p>\n<ul>\n<li>FSHD1 \u2013 analiza D4Z4<\/li>\n<li>Distrofie muscular\u0103 facioscapulohumeral\u0103 tip 1 \u2013 test molecular<\/li>\n<li>FSHD1 genetic testing<\/li>\n<li>FSHD1 D4Z4 repeat analysis<\/li>\n<li>Analiza contrac\u021biei D4Z4 4q35<\/li>\n<li>Analiza molecular\u0103 FSHD1<\/li>\n<li>FSHD1 \u2013 Optical Genome Mapping<\/li>\n<\/ul>\n<p><strong>11. Analize asociate recomandate<\/strong><\/p>\n<p>\u00cen func\u021bie de tabloul clinic \u0219i de recomandarea medicului, pot fi luate \u00een considerare:<\/p>\n<p>&#8211; evaluare neurologic\u0103 \u0219i examinare clinic\u0103 neuromuscular\u0103;<br \/>&#8211; CK (creatinkinaz\u0103);<br \/>&#8211; EMG\/electromiografie, dup\u0103 indica\u021bie;<br \/>&#8211; investiga\u021bii imagistice musculare, inclusiv RMN muscular, c\u00e2nd este indicat;<br \/>&#8211; testare genetic\u0103 pentru FSHD2, \u00een cazul unei suspiciuni clinice persistente \u0219i a unui rezultat neconfirmator pentru FSHD1;<br \/>&#8211; evaluarea genetic\u0103 a membrilor familiei, dup\u0103 identificarea unei modific\u0103ri patogene \u0219i cu consiliere genetic\u0103;<br \/>&#8211; alte investiga\u021bii genetice pentru diagnosticul diferen\u021bial al distrofiilor musculare, \u00een func\u021bie de fenotip.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Test molecular pentru identificarea contrac\u021biei patogene a unit\u0103\u021bilor repetitive D4Z4 din regiunea cromozomial\u0103 4q35, asociat\u0103 cu distrofia muscular\u0103 facioscapulohumeral\u0103 tip 1 (FSHD1), prin Optical Genome Mapping (OGM).<\/p>\n<p>Analiza evalueaz\u0103 num\u0103rul de unit\u0103\u021bi repetitive D4Z4 \u0219i permite interpretarea acestuia \u00een contextul prezen\u021bei haplotipului permisiv 4qA.<\/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-130024","product","type-product","status-publish","product_cat-analize","product_cat-diagnostic-genetic","product_cat-serviciu-laborator","first","instock","sale","shipping-taxable","purchasable","product-type-simple"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 5.0.1 - aioseo.com -->\n\t<meta name=\"description\" content=\"Test molecular pentru identificarea 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