{"id":7417,"date":"2024-02-05T20:46:27","date_gmt":"2024-02-05T19:46:27","guid":{"rendered":"https:\/\/genetika-plzen.nullable.group\/?page_id=7417"},"modified":"2025-09-14T04:21:42","modified_gmt":"2025-09-14T02:21:42","slug":"molekularni-laborator","status":"publish","type":"page","link":"https:\/\/genetika-plzen.nullable.group\/de\/molekularni-laborator\/","title":{"rendered":"Molekulargenetisches Labor"},"content":{"rendered":"<div data-elementor-type=\"wp-page\" data-elementor-id=\"7417\" class=\"elementor elementor-7417\">\n\t\t\t\t<div class=\"elementor-element elementor-element-b515531 e-flex e-con-boxed e-con e-parent\" data-id=\"b515531\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-6d84b61 elementor-widget elementor-widget-spacer\" data-id=\"6d84b61\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-51f4b1d e-flex e-con-boxed e-con e-parent\" data-id=\"51f4b1d\" data-element_type=\"container\" data-e-type=\"container\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-f6f3462 elementor-widget elementor-widget-text-editor\" data-id=\"f6f3462\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Unser Labor wurde 2003 gegr\u00fcndet. Seitdem expandiert es st\u00e4ndig, sowohl hinsichtlich des Personals als auch in Bezug auf die Ger\u00e4teausstattung und das Spektrum der durchgef\u00fchrten Methoden.<\/p>\n\n<p>Durch die hochwertige Ger\u00e4teausstattung unserers Labors sind wir imstande, molekulargenetische Untersuchungen nach den neusten Trends in der Diagnostik durchzuf\u00fchren. Das Labor detektiert bekannte Mutationen mittels PCR, bzw. Real Time PCR sowie Mutationen durch direkte Sequenzierung zur Diagnostik monogen erblicher Krankheiten. Ferner besch\u00e4ftigen wir uns mit der Schnelldiagnostik der h\u00e4ufigsten Aneuploidien aus nativem Fruchtwasser \u00fcber Multiplex QF PCR. Au\u00dferdem werden von hier aus DNA-Proben zur Untersuchung seltener Erbkrankheiten an verschiedene Einrichtungen in Tschechien und nach Bedarf auch ins Ausland verschickt.<\/p>\n\n<p>Wir bieten Vaterschaftsfeststellung (bzw. Mutterschafts-, Elternschaftsfeststellung) inkl. Gutachten an. Die Gutachten werden auf Verlangen von Gerichten, Strafbeh\u00f6rden oder privaten Personen erstellt.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-941a45f elementor-widget elementor-widget-image\" data-id=\"941a45f\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"500\" height=\"500\" src=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/thumb_3000x3000_molekularni-laborator.jpg\" class=\"attachment-large size-large wp-image-7423\" alt=\"\" srcset=\"https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/thumb_3000x3000_molekularni-laborator.jpg 500w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/thumb_3000x3000_molekularni-laborator-300x300.jpg 300w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/thumb_3000x3000_molekularni-laborator-150x150.jpg 150w, https:\/\/genetika-plzen.nullable.group\/wp-content\/uploads\/2024\/02\/thumb_3000x3000_molekularni-laborator-12x12.jpg 12w\" sizes=\"(max-width: 500px) 100vw, 500px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5ebbf9f elementor-widget elementor-widget-text-editor\" data-id=\"5ebbf9f\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><strong>Unser Labor ist gem. der Norm \u010cSN EN ISO 15189 akkreditiert.<\/strong><\/p>\n\n<p>Jedes Jahr werden die durchgef\u00fchrten Untersuchungen erfolgreich externen Qualit\u00e4tskontrollen unterzogen.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-c7a6e7a elementor-widget elementor-widget-heading\" data-id=\"c7a6e7a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Dokumente<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-061e03c elementor-button-info elementor-widget elementor-widget-button\" data-id=\"061e03c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"\/wp-content\/uploads\/2024\/06\/F.GP-911-v003-EN-Requisition-for-molecular-genetics-test_interactive.pdf\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Bestellformular<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-9f5ab98 elementor-button-info elementor-widget elementor-widget-button\" data-id=\"9f5ab98\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"\/wp-content\/uploads\/2024\/06\/F.GP-901-v002-DE-Zustimmung-mit-der-genetischen__-Laboruntersuchung_interaktiv.pdf\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Zustimmung des Labors<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-f9b3ec0 elementor-button-info elementor-widget elementor-widget-button\" data-id=\"f9b3ec0\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"\/wp-content\/uploads\/2024\/06\/F.GP-917-v002-DE-Informierte-Zustimmung-zur-Invasiven-Pranatalen__-Untersuchung_interaktiv.pdf\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Einwilligung in einen invasiven Eingriff<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-a1e5d0b elementor-widget elementor-widget-spacer\" data-id=\"a1e5d0b\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-431bacd elementor-widget elementor-widget-heading\" data-id=\"431bacd\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">\u00dcbersicht der durchgef\u00fchrten Methoden<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-59fc3d0 elementor-widget elementor-widget-accordion\" data-id=\"59fc3d0\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"accordion.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-accordion\">\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-9431\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-9431\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Untersuchung der Aneuploidie mit der QF-PCR-Methode<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-9431\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-9431\"><p>Vy\u0161et\u0159en\u00ed metodou QF PCR (kvantitativn\u00ed fluorescen\u010dn\u00ed polymer\u00e1zov\u00e1 \u0159et\u011bzov\u00e1 reakce) slou\u017e\u00ed jako rychl\u00e1 diagnostika nej\u010dast\u011bj\u0161\u00edch aneuploidi\u00ed a uniparent\u00e1ln\u00ed dizomie autozom\u00e1ln\u00edch chromosom\u016f (13,18,21,15,16, 22) a pohlavn\u00edch chromoz\u00f3m\u016f (X,Y). Jedn\u00e1 se o anal\u00fdzu specifick\u00fdch STR lokus\u016f pomoc\u00ed metody PCR a n\u00e1sledn\u00e9 fragmenta\u010dn\u00ed anal\u00fdzy kapil\u00e1rn\u00ed elektrofor\u00e9zou.<\/p><p>Detekce d\u011bdi\u010dn\u00fdch onemocn\u011bn\u00ed zahrnuje p\u0159edev\u0161\u00edm syndromy Down, Edward, Patau, Klinefelter, Turner, Jacob (supermale, XYY), triple X (superfemale, XXX) a polyploidie.<\/p><p>Vy\u0161et\u0159en\u00ed aneuploidi\u00ed lze prov\u00e1d\u011bt z plodov\u00e9 vody, choriov\u00fdch klk\u016f, fet\u00e1ln\u00ed krve a potracen\u00e9 tk\u00e1n\u011b plodu. Navazuje na n\u00ed <a href=\"https:\/\/genetika-plzen.nullable.group\/de\/cytogeneticka-laborator\/\">cytogenetick\u00e9 vy\u0161et\u0159en\u00ed v\u0161ech chromosom\u016f<\/a>.<\/p><p><em>Indikace k\u00a0vy\u0161et\u0159en\u00ed<\/em>: pozitivn\u00ed atypick\u00fd nebo hrani\u010dn\u00ed screening I. a II. Trimestru, celkov\u00e9 genetick\u00e9 riziko pro plod nad 10 %, abnorm\u00e1ln\u00ed ultrazvukov\u00fd n\u00e1lez, kombinace v\u00edce rizikov\u00fdch faktor\u016f.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-9432\" class=\"elementor-tab-title\" data-tab=\"2\" role=\"button\" aria-controls=\"elementor-tab-content-9432\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Untersuchung der h\u00e4ufigsten Mutationen, die zystische Fibrose verursachen<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-9432\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"2\" role=\"region\" aria-labelledby=\"elementor-tab-title-9432\"><p>Cystick\u00e1 fibr\u00f3za (mukoviscid\u00f3za) je multisyst\u00e9mov\u00e9 autozom\u00e1ln\u011b recesivn\u011b geneticky podm\u00edn\u011bn\u00e9 onemocn\u011bn\u00ed, kter\u00e9 se v klasick\u00e9 form\u011b projevuje onemocn\u011bn\u00edm d\u00fdchac\u00edch cest a plic, insuficienc\u00ed zevn\u00ed sekrece pankreatu, vysokou koncentrac\u00ed elektrolyt\u016f v potu a\u00a0 poruchou reprodukce mu\u017e\u016f. Je zp\u016fsobena mutacemi v genu CFTR. Incidence v \u010desk\u00e9 populaci je 1:4500, tzn. frekvenci p\u0159ena\u0161e\u010d\u016f 1:34 (Votava F. et al., 2014).<\/p><p><span data-olk-copy-source=\"MessageBody\">Na\u0161e laborato\u0159 prov\u00e1d\u00ed vy\u0161et\u0159en\u00ed 68 mutac\u00ed genu CFTR a stanoven\u00ed polymorfismu v intronu 8 (Tn varianty). Vy\u0161et\u0159ovan\u00e9 mutace p\u0159edstavuj\u00ed 96 % kauz\u00e1ln\u00edch mutac\u00ed CTFR genu v \u010desk\u00e9 populaci. Jejich vylou\u010den\u00edm se sni\u017euje pravd\u011bpodobnost nosi\u010dstv\u00ed mutace v CFTR genu na 1:847 (0,118 %). Test je schopen zachytit jak asymptomatick\u00e9 p\u0159ena\u0161e\u010de (heterozygoty), tak posti\u017een\u00e9 jedince (homozygoty). Zde najdete <a href=\"https:\/\/www.genetika-plzen.cz\/wp-content\/uploads\/2025\/06\/SE.GP-22-v001-Referencni-sekvence-CFTR.pdf\">Seznam referen\u010dn\u00edch sekvenc\u00ed<\/a>.\u00a0<\/span><\/p><p><em>Indikationen f\u00fcr die Untersuchung<\/em>: pacient s p\u0159\u00edznaky cystick\u00e9 fibr\u00f3zy, p\u0159\u00edbuzn\u00ed pacienta s cystickou fibr\u00f3zou a detekovan\u00fdmi mutacemi v CFTR, partner nosi\u010de mutace p\u0159ed pl\u00e1novan\u00fdm t\u011bhotenstv\u00edm, p\u0159\u00edpadn\u011b v pr\u016fb\u011bhu t\u011bhotenstv\u00ed, dosp\u011bl\u00ed mu\u017ei s poruchou plodnosti, prenat\u00e1ln\u00ed diagnostika v p\u0159\u00edpad\u011b partner\u016f heterozygot\u016f pro mutaci v CFTR genu, prekoncep\u010dn\u00ed vy\u0161et\u0159en\u00ed, d\u00e1rci gamet.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-9433\" class=\"elementor-tab-title\" data-tab=\"3\" role=\"button\" aria-controls=\"elementor-tab-content-9433\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Untersuchung der h\u00e4ufigsten Mikrodeletionen der AZF-Region auf dem Y-Chromosom<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-9433\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"3\" role=\"region\" aria-labelledby=\"elementor-tab-title-9433\"><p>Anal\u00fdza AZF oblasti (azoospermick\u00e9 faktory) na dlouh\u00e9m rameni Y chromosomu (Yq).\u00a0 Je rozd\u011blena na AZFa, AZFb a AZFc. Geny, kter\u00e9 se v t\u00e9to oblasti vyskytuj\u00ed se \u00fa\u010dastn\u00ed spermatogeneze a jsou nezbytn\u00e9 pro mu\u017eskou reprodukci. V z\u00e1vislosti na tom, kter\u00fd z azoospermatick\u00fdch faktor\u016f chyb\u00ed se u mu\u017e\u016f projevuje oligozoospermie (sn\u00ed\u017een\u00fd po\u010det spermi\u00ed v ejakul\u00e1tu) a\u017e azoospermie (nep\u0159\u00edtomnost spermi\u00ed v ejakul\u00e1tu). Vy\u0161et\u0159en\u00ed STS lokus\u016f na Yq zachyt\u00ed cca 90% delec\u00ed v AZF oblastech.<\/p><p><em>Indikace k\u00a0vy\u0161et\u0159en\u00ed<\/em>: Fruchtbarkeitsst\u00f6rung beim Mann \u2013 schlechte Spermiogramm-Parameter<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-9434\" class=\"elementor-tab-title\" data-tab=\"4\" role=\"button\" aria-controls=\"elementor-tab-content-9434\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Untersuchung der h\u00e4ufigsten Mutation, die das Nijmegen-Breakage-Syndrom verursacht<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-9434\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"4\" role=\"region\" aria-labelledby=\"elementor-tab-title-9434\"><p>Vy\u0161et\u0159en\u00ed se prov\u00e1d\u00ed za \u00fa\u010delem detekce mutace c.657-661del, delece p\u011bti nukleotid\u016f, v genu NBN. Tato mutace je v homozygotn\u00edm stavu zodpov\u011bdn\u00e1 za Nijmegen breakage syndrome (NBS), zn\u00e1m\u00fd tak\u00e9 jako syndrom Seemanov\u00e9. NBS je vz\u00e1cn\u00e1 autozom\u00e1ln\u011b recesivn\u00ed porucha reparace DNA. Jedn\u00e1 se o syndrom instability chromozom\u016f projevuj\u00edc\u00ed se mikrocefali\u00ed, r\u016fstovou retardac\u00ed, imunodeficienc\u00ed a predispozic\u00ed k malignit\u00e1m. Zv\u00fd\u0161en\u00fd v\u00fdskyt malignit postihuje i heterozygotn\u00ed p\u0159ena\u0161e\u010de. Pacienti s NBS jsou hypersenzitivn\u00ed v\u016f\u010di ioniza\u010dn\u00edmu z\u00e1\u0159en\u00ed. Tato mutace se \u010dast\u011bji vyskytuje u slovansk\u00e9 populace, frekvence nosi\u010d\u016f je 1:100-150.<\/p><p><em>Indikationen f\u00fcr die Untersuchung<\/em>: vhodn\u00e9 pro pacienty s klinick\u00fdmi projevy mikrocefalie, instability chromozom\u016f, r\u016fstov\u00e9 retardace, zv\u00fd\u0161en\u00e9 \u010detnosti malignit v rodinn\u00e9 anamn\u00e9ze (p\u0159edev\u0161\u00edm lymfomy a leuk\u00e9mie), sn\u00ed\u017een\u00e9 hladiny IgG a IgA v s\u00e9ru.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-9435\" class=\"elementor-tab-title\" data-tab=\"5\" role=\"button\" aria-controls=\"elementor-tab-content-9435\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Untersuchung der h\u00e4ufigsten Mutationen, die f\u00fcr H\u00e4mochromatose verantwortlich sind<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-9435\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"5\" role=\"region\" aria-labelledby=\"elementor-tab-title-9435\"><p>Hemochromat\u00f3za je porucha ukl\u00e1d\u00e1n\u00ed \u017eeleza, kter\u00e1 m\u00e1 za n\u00e1sledek jeho ukl\u00e1d\u00e1n\u00ed v parenchym\u00e1ln\u00edch bu\u0148k\u00e1ch. Jak onemocn\u011bn\u00ed postupuje, vede to k rozs\u00e1hl\u00e9mu po\u0161kozen\u00ed tk\u00e1n\u011b, diabetu mellitu, cirh\u00f3ze jater, hepatocelul\u00e1rn\u00edmu karcinomu, srde\u010dn\u00edmu selh\u00e1n\u00ed, artritid\u011b a pigmentaci. Prvn\u00ed p\u0159\u00edznaky se \u010dasto objevuj\u00ed mezi 40. a 50. rokem. Jedn\u00e1 se o autozom\u00e1ln\u011b recesivn\u00ed poruchu.<\/p><p>Detekujeme nej\u010dast\u011bj\u0161\u00ed mutace c.845G&gt;A (C282Y) a c.187C&gt;G (H63D) v lidsk\u00e9m genu HFE pomoc\u00ed alelov\u011b specifick\u00e9 PCR. Test je schopen zachytit jak asymptomatick\u00e9 p\u0159ena\u0161e\u010de (heterozygoty), tak posti\u017een\u00e9 jedince (homozygoty).<\/p><p><em>Indikationen f\u00fcr die Untersuchung<\/em>: Fibrose bis Leberzirrhose, Kardiomyopathie, Pankreopathie, Diabetes, Arthropathie, Hautpigmentierung.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-9436\" class=\"elementor-tab-title\" data-tab=\"6\" role=\"button\" aria-controls=\"elementor-tab-content-9436\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Untersuchung der h\u00e4ufigsten thrombophilen Mutationen<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-9436\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"6\" role=\"region\" aria-labelledby=\"elementor-tab-title-9436\"><p>Trombof\u00edlie je sklon ke zv\u00fd\u0161en\u00e9 sr\u00e1\u017elivosti krve, kdy je zv\u00fd\u0161en\u00e9 riziko ke vzniku krevn\u00edch sra\u017eenin (tromb), kter\u00e9 mohou v\u00e9st k \u010d\u00e1ste\u010dn\u00e9mu nebo \u00fapln\u00e9mu uzav\u0159en\u00ed c\u00e9v, nej\u010dast\u011bji doln\u00edch kon\u010detin. \u010c\u00e1st sra\u017eeniny se m\u016f\u017ee uvolnit, putovat \u017eiln\u00edm \u0159e\u010di\u0161t\u011bm a po pr\u016fchodu srdcem uzav\u0159\u00edt n\u011bkterou z plicn\u00edch c\u00e9v \u2013 vznikne plicn\u00ed embolie. Vy\u0161et\u0159ujeme dv\u011b mutace gen\u016f F5 a F2. Tyto geny k\u00f3duj\u00ed proteiny faktor V a faktor II, kter\u00e9 se v\u00fdznamn\u011b pod\u00edlej\u00ed na procesu sr\u00e1\u017een\u00ed krve. Mutace v genu F5 se naz\u00fdv\u00e1 <b>Leiden <\/b>(FV Leiden \u2013 G1691A). V \u010desk\u00e9 populaci je 5-10% nositel\u016f t\u00e9to mutace v heterozygotn\u00edm stavu (mutovan\u00e1 jedna alela) a zvy\u0161uje riziko tromboembolick\u00e9 nemoci asi 7x. V p\u0159\u00edpad\u011b homozygot\u016f (ob\u011b alely mutovan\u00e9) riziko stoup\u00e1 p\u0159ibli\u017en\u011b 20x. Druh\u00e1 mutace je Protrombinov\u00e1, v genu F2. Heterozygot\u016f v populaci jsou p\u0159ibli\u017en\u011b 2-3% a zvy\u0161uje riziko tromb\u00f3z asi 3x. U homozygot\u016f je to pak a\u017e 18x.<\/p><p><em>Indikationen zur Untersuchung:<\/em><\/p><ul><li>Venenthrombose (Embolie) bei einer Person unter 50 Jahren<\/li><li>Thrombose an ungew\u00f6hnlicher Stelle<\/li><li>Thromboembolische Erkrankung bei einem Patienten mit einer belastenden Familienanamnese<\/li><li>Venenthrombose w\u00e4hrend der Schwangerschaft oder im Zusammenhang mit der Anwendung einer Hormontherapie oder Empf\u00e4ngnisverh\u00fctung<\/li><li>Patient mit einer Familienanamnese vor einer geplanten Operation<\/li><li>Patientin mit wiederholten Aborten im II. oder III. Schwangerschaftstrimester ohne ersichtlichen Grund<\/li><li>Indikationen durch einen klinischen H\u00e4matologen<\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-9437\" class=\"elementor-tab-title\" data-tab=\"7\" role=\"button\" aria-controls=\"elementor-tab-content-9437\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Untersuchung der h\u00e4ufigsten Mutationen f\u00fcr H\u00f6rverlust<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-9437\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"7\" role=\"region\" aria-labelledby=\"elementor-tab-title-9437\"><p>Vrozen\u00e9 poruchy sluchu se vyskytuj\u00ed p\u0159ibli\u017en\u011b u 1 novorozence z 1000 a zhruba polovina z nich je zp\u016fsobena geneticky. V\u011bt\u0161inou se jedn\u00e1 o autozom\u00e1ln\u011b recesivn\u00ed nesyndromovou (izolovanou) ztr\u00e1tu sluchu. Vy\u0161et\u0159ujeme prevalentn\u00ed mutace &#8211; c.35delG (p.G12fs) a c.71G&gt;A (W24X) v genu pro connexin 26 (GJB2), kter\u00e9 jsou nej\u010dast\u011bj\u0161\u00ed p\u0159\u00ed\u010dinou nesyndromov\u00e9 ztr\u00e1ty sluchu. Vy\u0161et\u0159en\u00edm je mo\u017en\u00e9 zachytit jak posti\u017een\u00e9 jedince (homozygoty), tak sly\u0161\u00edc\u00ed p\u0159ena\u0161e\u010de (heterozygoty).<\/p><p><em>Indikationen zur Untersuchung:<\/em><\/p><ul><li>pr\u00e4lingualer H\u00f6rverlust<\/li><li>pr\u00e4lingualer H\u00f6rverlust in der Familie<\/li><li>angeborener H\u00f6rverlust vor der Cochlea-Implantation<\/li><li>Vorliegen der Mutation bei Partnern in einer blutsverwandtschaftlichen Verbindung, bzw. bei Neugeborenen, die aus inzestu\u00f6sen Beziehungen<\/li><li>h\u00f6render Verwandter in Familien geboren wurden, in denen die Mutation bereits entdeckt worden war<\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-9438\" class=\"elementor-tab-title\" data-tab=\"8\" role=\"button\" aria-controls=\"elementor-tab-content-9438\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Untersuchung pr\u00e4disponierender Allele f\u00fcr Z\u00f6liakie<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-9438\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"8\" role=\"region\" aria-labelledby=\"elementor-tab-title-9438\"><p>Celiakie je autoimunitn\u00ed onemocn\u011bn\u00ed zp\u016fsoben\u00e9 nesn\u00e1\u0161enlivost\u00ed lepku, co\u017e je b\u00edlkovinn\u00e1 slo\u017eka p\u0161enice, \u017eita a je\u010dmene. Onemocn\u011bn\u00ed zp\u016fsobuje z\u00e1n\u011bt sliznice tenk\u00e9ho st\u0159eva a destrukci klk\u016f a mikroklk\u016f. Nej\u010dast\u011bj\u0161\u00edmi projevy jsou bolest b\u0159icha, nad\u00fdm\u00e1n\u00ed, pr\u016fjmy, ojedin\u011ble i z\u00e1cpa \u010di zvracen\u00ed, nechutenstv\u00ed, hubnut\u00ed. U mal\u00fdch d\u011bt\u00ed lze \u010dasto pozorovat vzedmut\u00e9 b\u0159\u00ed\u0161ko a poruchy r\u016fstu.<\/p><p>P\u0159i testov\u00e1n\u00ed detekujeme HLA alely predispozi\u010dn\u00ed k celiakii. Vy\u0161et\u0159ovan\u00e9 alely se vyskytuj\u00ed u v\u00edce ne\u017e u 99% pacient\u016f s celiaki\u00ed a u 20% zdrav\u00fdch kontrol. P\u0159\u00edtomnost predispozi\u010dn\u00edch alel zvy\u0161uje 50x riziko onemocn\u011bn\u00ed celiaki\u00ed oproti populaci.<\/p><p><em>Indikationen zur Untersuchung:<\/em><\/p><ul><li>Gedeihst\u00f6rung bei Kindern<\/li><li>Verdauungsst\u00f6rungen<\/li><li>Vorkommen einer Z\u00f6liakie in der Familie<\/li><li>An\u00e4mie unbekannter Herkunft<\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-9439\" class=\"elementor-tab-title\" data-tab=\"9\" role=\"button\" aria-controls=\"elementor-tab-content-9439\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Untersuchung des Vorhandenseins des HLA-B27-Allels<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-9439\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"9\" role=\"region\" aria-labelledby=\"elementor-tab-title-9439\"><p>Becht\u011brevova choroba (ankylozuj\u00edc\u00ed spondylitida) je chronick\u00e9 z\u00e1n\u011btliv\u00e9 onemocn\u011bn\u00ed p\u0159edev\u0161\u00edm p\u00e1te\u0159n\u00edch obratl\u016f. P\u0159esn\u00e1 p\u0159\u00ed\u010dina je nejasn\u00e1, ale bylo zji\u0161t\u011bno, \u017ee u v\u00edce ne\u017e 95% (u b\u011blo\u0161sk\u00e9 populace) pacient\u016f s ankylozuj\u00edc\u00ed spondylitidou se vyskytuje antigen HLA-B27. V\u00fdskyt alely HLA-B27 je u b\u011bloch\u016f asi 8%. U osob s antigenem HLA-B27 je pravd\u011bpodobnost onemocn\u011bn\u00ed a\u017e 300kr\u00e1t vy\u0161\u0161\u00ed oproti osob\u00e1m, kter\u00e9 tento antigen nevlastn\u00ed. P\u0159\u00edtomnost antigenu HLA-B27 v\u0161ak je\u0161t\u011b neznamen\u00e1, \u017ee mus\u00ed propuknout onemocn\u011bn\u00ed. Jedn\u00e1 se pouze o zv\u00fd\u0161en\u00e9 riziko.<\/p><p>P\u0159i testu detekujeme p\u0159\u00edtomnost alely HLA- B27. Nen\u00ed vhodn\u00e9 pou\u017e\u00edt tento test pro vy\u0161et\u0159en\u00ed asymptomatick\u00e9 populace pro detekci ankylozuj\u00edc\u00ed spondylitidy, ale test ukazuje na zv\u00fd\u0161enou pravd\u011bpodobnost v\u00fdskytu u symptomatick\u00e9ho pacienta. Test je tak\u00e9 vhodn\u00fd k vylou\u010den\u00ed choroby u klinicky nejasn\u00e9ho pacienta.<\/p><p><em>Indikationen zur Untersuchung:<\/em><br \/>Bolesti zad, chronick\u00e1 bolest a\u017e ztuhlost doln\u00ed \u010d\u00e1sti p\u00e1te\u0159e, sni\u017eov\u00e1n\u00ed ohebnosti p\u00e1te\u0159e, bolest hrudn\u00edku p\u0159i hlubok\u00e9m d\u00fdch\u00e1n\u00ed, chronick\u00e1 \u00fanava, z\u00e1n\u011bt o\u010dn\u00ed duhovky a \u0159asnat\u00e9ho t\u011bl\u00edska (iridocyklitida). M\u00e9n\u011b \u010dast\u00e9 p\u0159\u00edznaky jsou z\u00e1n\u011bt kloub\u016f, plicn\u00ed fibr\u00f3za, odlu\u010dov\u00e1n\u00ed neht\u016f od nehtov\u00e9ho l\u016f\u017eka.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-94310\" class=\"elementor-tab-title\" data-tab=\"10\" role=\"button\" aria-controls=\"elementor-tab-content-94310\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Untersuchung des Fragilen-X-Syndroms \u2013 FRAXA<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-94310\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"10\" role=\"region\" aria-labelledby=\"elementor-tab-title-94310\"><p>Syndrom Fragiln\u00edho X (FraX) je X-v\u00e1zan\u00e9 onemocn\u011bn\u00ed projevuj\u00edc\u00ed se ment\u00e1ln\u00ed retardac\u00ed s mo\u017en\u00fdmi dysmorfick\u00fdmi rysy (prot\u00e1hl\u00fd obli\u010dej s prominuj\u00edc\u00ed bradou a velk\u00fdma odst\u00e1vaj\u00edc\u00edma u\u0161ima). Syndrom je zp\u016fsoben dynamickou mutac\u00ed \u2013 expanz\u00ed trinukleotid\u016f CGG v 5\u00b4nep\u0159ekl\u00e1dan\u00e9 oblasti genu FMR1. Po\u010det repetic se li\u0161\u00ed od norm\u00e1ln\u00edho po\u010dtu opakov\u00e1n\u00ed, p\u0159es intermedi\u00e1rn\u00ed mutaci, premutaci a\u017e po plnou mutaci.<\/p><p>Nosi\u010di premutace nejsou posti\u017eeni ment\u00e1ln\u00ed retardac\u00ed, ale premutace zp\u016fsobuje s n\u00edzkou penetranc\u00ed preseniln\u00ed tremor (t\u0159es) a p\u0159ed\u010dasn\u00e9 ovari\u00e1ln\u00ed selh\u00e1n\u00ed u \u017een (cca u 20 % nosi\u010dek premutace). Premutace jsou v pr\u016fb\u011bhu mei\u00f3zy nebo ran\u00e9 embryogeneze nestabiln\u00ed a jestli\u017ee jsou p\u0159en\u00e1\u0161eny \u017eenou, hroz\u00ed expanze CGG-repetice do pln\u00e9 mutace. Oproti tomu premutace p\u0159en\u00e1\u0161en\u00e9 mu\u017ei jen zcela v\u00fdjime\u010dn\u011b expanduj\u00ed do pln\u00e9 mutace. Ment\u00e1ln\u00ed retardac\u00ed zp\u016fsobenou plnou mutac\u00ed jsou posti\u017een\u00ed p\u0159edev\u0161\u00edm mu\u017ei, ale onemocn\u011bn\u00ed se m\u016f\u017ee projevit i u \u017een. P\u0159ibli\u017en\u011b polovina nosi\u010dek pln\u00e9 mutace m\u00e1 lehkou a\u017e st\u0159edn\u011b t\u011b\u017ekou ment\u00e1ln\u00ed retardaci.<\/p><p>Bei der PCR-Untersuchung ermitteln wir die Anzahl der CGG-Wiederholungen im FMR1-Gen.<\/p><p><em>Indikationen zur Untersuchung:<\/em><\/p><ul><li>psychomotorische Retardierung, Autismus in der pers\u00f6nlichen oder famili\u00e4ren Anamnese<\/li><li>vorzeitiges Ovarialversagen<\/li><li>Pr\u00e4seniler Tremor bei M\u00e4nnern<\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-94311\" class=\"elementor-tab-title\" data-tab=\"11\" role=\"button\" aria-controls=\"elementor-tab-content-94311\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Untersuchung des Gilbert-Syndroms<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-94311\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"11\" role=\"region\" aria-labelledby=\"elementor-tab-title-94311\"><p>Gilbert\u016fv syndrom je celo\u017eivotn\u00ed autozom\u00e1ln\u011b recesivn\u00ed d\u011bdi\u010dn\u00e1 porucha metabolismu \u017elu\u010dov\u00e9ho barviva bilirubinu v krvi. Je zp\u016fsoben poruchou \u010dinnosti UDP-lukuronyltransfer\u00e1zy 1A1, sn\u00ed\u017eenou na 20-30 % u posti\u017een\u00fdch homozygot\u016f. Projevuje se nej\u010dast\u011bji m\u00edrnou hyperbilirubinemi\u00ed bez zn\u00e1mek jatern\u00edho onemocn\u011bn\u00ed \u010di hyperhemol\u00fdzy. Onemocn\u011bn\u00ed je pova\u017eov\u00e1no za m\u00e1lo z\u00e1va\u017en\u00e9. Nej\u010dast\u011bji (nad 90 % p\u0159\u00edpad\u016f) je p\u0159\u00ed\u010dinou nav\u00fd\u0161en\u00ed po\u010dtu TA opakov\u00e1n\u00ed v promotorov\u00e9m TATA boxu UGT1A1 genu z 6 na 7.<\/p><p>P\u0159i vy\u0161et\u0159en\u00ed detekujeme po\u010det TA opakov\u00e1n\u00ed v TATA a v p\u0159\u00edpad\u011b nalezen\u00ed homozygotn\u00edho v\u00fdsledku 7TA\/7TA potvrzujeme Gilbert\u016fv syndrom.<\/p><p><em>Indikationen zur Untersuchung:<\/em><\/p><ul><li>isolierte leichte Hyperbilirubin\u00e4mie (Verdacht auf Gilbert-Syndrom)<\/li><li>bei Verwandten mit nachgewiesenem Gilbert-Syndrom<\/li><li>vor Behandlung mit Irinotecan<\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-94312\" class=\"elementor-tab-title\" data-tab=\"12\" role=\"button\" aria-controls=\"elementor-tab-content-94312\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Untersuchung der h\u00e4ufigsten f\u00fcr Laktoseintoleranz verantwortlichen Mutation<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-94312\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"12\" role=\"region\" aria-labelledby=\"elementor-tab-title-94312\"><p>Jako u v\u0161ech savc\u016f, je i u \u010dlov\u011bka schopnost tr\u00e1vit lakt\u00f3zu nejv\u011bt\u0161\u00ed v kojeneck\u00e9m v\u011bku a s p\u0159ib\u00fdvaj\u00edc\u00edm v\u011bkem kles\u00e1. Dosp\u011bl\u00fd \u010dlov\u011bk ve srovn\u00e1n\u00ed s kojencem produkuje pouze desetinu lakt\u00e1zy a v\u011bt\u0161ina lid\u00ed ve v\u011bku 60 let u\u017e lakt\u00f3zu v\u016fbec nestr\u00e1v\u00ed. Odhadem 75\u201380 % sv\u011btov\u00e9 populace je v dosp\u011blosti intolerantn\u00ed na lakt\u00f3zu. Nej\u010dast\u011bj\u0161\u00edmi p\u0159\u00edznaky jsou poruchy tr\u00e1ven\u00ed lakt\u00f3zy, plynatost, abdomin\u00e1ln\u00ed distenze a pr\u016fjem. Lakt\u00f3zov\u00e1 intolerance se li\u0161\u00ed u etnick\u00fdch skupin, p\u0159i\u010dem\u017e u evropsk\u00e9 populace se pohybuje okolo 30%. Vy\u0161et\u0159ujeme variantu -13910C&gt;T v promotorov\u00e9 oblasti genu LCT.<\/p><p>Der Test ist in der Lage, sowohl asymptomatische (heterozygote) Tr\u00e4ger als auch betroffene (homozygote) Personen zu erkennen.<\/p><p><em>Indikationen zur Untersuchung:<\/em><\/p><ul><li>Magen-Darm-Beschwerden nach dem Verzehr von laktosehaltigen Lebensmitteln<\/li><li>Unterscheidung des prim\u00e4ren Typs des Laktasemangels vom sekund\u00e4ren Typ<\/li><li>pathologischer Laktosetoleranztest oder positiver H2-Atemtest<\/li><li>Osteoporose<\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-94313\" class=\"elementor-tab-title\" data-tab=\"13\" role=\"button\" aria-controls=\"elementor-tab-content-94313\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Nicht-invasiver pr\u00e4nataler Chromosomentest (NIPT) mittels massiv paralleler Sequenzierung <\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-94313\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"13\" role=\"region\" aria-labelledby=\"elementor-tab-title-94313\"><p>Neinvazivn\u00ed prenat\u00e1ln\u00ed vy\u0161et\u0159en\u00ed (NIPT) je vy\u0161et\u0159en\u00ed nej\u010dast\u011bj\u0161\u00edch aneuploidi\u00ed plodu z krve matky. Vyu\u017e\u00edv\u00e1 se voln\u00e1 DNA (sm\u011bs voln\u00e9 DNA matky a plodu) izolovan\u00e1 z plazmy. Pou\u017e\u00edv\u00e1me test Panorama (firma Natera), zalo\u017een\u00fd na c\u00edlen\u00e9m SNP sekvenov\u00e1n\u00ed, kter\u00fd mu umo\u017en\u00ed odli\u0161it volnou DNA plodu a volnou DNA matky. Panorama test vykazuje vysokou senzitivitu pro trisomie chromozomu 21 (99%), 13 (99%),18 (96,4%) a pohlavn\u00edch chromozom\u016f (100%), i pro monosomii chromozomu X (92,9%). Z\u00e1rove\u0148 um\u00ed detekovat syndrom mizej\u00edc\u00edho dvoj\u010dete, triploidii a testovat aneuploidie chromosom\u016f 13,18,21 u dvoj\u010detn\u00e9ho t\u011bhotenstv\u00ed a t\u011bhotenstv\u00ed z darovan\u00e9ho oocytu.<\/p><p><em>Indikationen zur Untersuchung:<\/em><\/p><ul><li>Erh\u00f6htes genetisches Risiko einer Chromosomenaberration f\u00fcr den F\u00f6tus (Chromosomen 21, 18, 13, X, Y)<\/li><li>Normaler Ultraschallbefund bei positivem\/grenzwertigem\/atypischem Screening<\/li><li>Erh\u00f6htes Komplikationsrisiko bei Durchf\u00fchrung der invasiven Diagnostik (CVS\/AMC) bei erh\u00f6htem genetischem Risiko<\/li><li>H\u00f6heres Alter der Schwangeren (\u00fcber 38 Jahre)<\/li><li>Schwangerschaft nach IVF, Dysfertilit\u00e4t oder behandelter Sterilit\u00e4t<\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-94314\" class=\"elementor-tab-title\" data-tab=\"14\" role=\"button\" aria-controls=\"elementor-tab-content-94314\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Untersuchung erblicher Tumorsyndrome<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-94314\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"14\" role=\"region\" aria-labelledby=\"elementor-tab-title-94314\"><p>Nur ein kleiner Teil der Tumoren (5-10 %) ist erblich bedingt, es handelt sich also um erbliche Tumorsyndrome.<\/p><p>Erbliche Krebserkrankungen entstehen durch erbliche Mutationen (Defekte der in der DNA gespeicherten genetischen Informationen) von <b>Tumorpr\u00e4dispositionsgenen<\/b>, kter\u00fdch je zn\u00e1mo n\u011bkolik stovek. P\u0159\u00ed\u010dinn\u00e1 mutace se v posti\u017een\u00e9 rodin\u011b p\u0159ed\u00e1v\u00e1 z generace na generaci. Od nosi\u010de j\u00ed m\u016f\u017ee jeho potomek z\u00edskat v polovin\u011b p\u0159\u00edpad\u016f. Jej\u00ed p\u0159\u00edtomnost v\u00fdznamn\u011b zvy\u0161uje pravd\u011bpodobnost vzniku n\u00e1dorov\u00e9ho onemocn\u011bn\u00ed.<\/p><p>Eine rechtzeitige <b>Analyse der erblichen Tumorpr\u00e4disposition<\/b> m\u00e1 mimo\u0159\u00e1dnou d\u016fle\u017eitost pro vysoce rizikov\u00e9 osoby a umo\u017enuje za\u0159adit nosi\u010de mutace do preventivn\u00edch sledovac\u00edch program\u016f a zv\u00e1\u017een\u00ed p\u0159\u00edpadn\u00fdch profylaktick\u00fdch operac\u00ed. Nej\u010dast\u011bj\u0161\u00ed d\u011bdi\u010dn\u00e9 formy n\u00e1dor\u016f jsou n\u00e1dory prsu, vaje\u010dn\u00edk\u016f a tlust\u00e9ho st\u0159eva.<\/p><p>Heredit\u00e1rn\u00ed syndrom n\u00e1doru prsu a\/nebo ov\u00e1ri\u00ed je autozom\u00e1ln\u011b dominantn\u00ed syndrom s ne\u00faplnou penetranc\u00ed. P\u0159\u00ed\u010dinou jsou kauz\u00e1ln\u00ed (patogenn\u00ed) mutace p\u0159edev\u0161\u00edm v tumor supresorov\u00fdch genech BRCA1 nebo BRCA2. Krom\u011b gen\u016f BRCA1,2 jsou za vysoce rizikov\u00e9 v souvislosti s n\u00e1dory prsu pova\u017eov\u00e1ny geny TP53, STK11, CDH1, PTEN, PALB2, st\u0159edn\u011b rizikov\u00e9 pak geny ATM, CHEK2, NBN. U n\u00e1dor\u016f ov\u00e1ri\u00ed jsou vysoce rizikov\u00e9 geny pro Lynch\u016fv syndrom (MLH1, MSH2, MSH6, PMS2), d\u00e1le geny BRIP1, RAD51C a RAD51D.<\/p><p>N\u00e1dory tlust\u00e9ho st\u0159eva m\u016f\u017eeme rozd\u011blit na nepolyp\u00f3zn\u00ed \u2013 Lynch\u016fv syndrom (geny MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH) a adenomat\u00f3zn\u00ed polyp\u00f3zu \u2013 FAP (gen APC).<\/p><p>Neben Brust-, Ovarial- und Darmtumoren kann die Vererbung auch Magen-, Haut-, Bauchspeicheldr\u00fcsen-, Nieren- und andere Tumoren betreffen.<\/p><p>Muta\u010dn\u00ed anal\u00fdza\/screening t\u011bchto gen\u016f umo\u017e\u0148uje potvrzen\u00ed genetick\u00e9ho pozad\u00ed vzniku n\u00e1dorov\u00e9ho onemocn\u011bn\u00ed u posti\u017een\u00fdch jedinc\u016f a n\u00e1sledn\u00e9 prediktivn\u00ed testov\u00e1n\u00ed jejich biologick\u00fdch p\u0159\u00edbuzn\u00fdch. Asymptomati\u010dt\u00ed nosi\u010di mutace jsou za\u0159azeni do dispenzariza\u010dn\u00edho programu, kter\u00fd slou\u017e\u00ed k v\u010dasn\u00e9mu z\u00e1chytu mo\u017en\u00e9ho n\u00e1dorov\u00e9ho onemocn\u011bn\u00ed. K testov\u00e1n\u00ed pou\u017e\u00edv\u00e1me panel <a href=\"http:\/\/www.czecanca.cz\/\"><b>Czecanca-Panel <\/b><\/a>(Czech cancer panel for clinical application), kter\u00fd byl vyvinut skupinou doc. MUDr. Kleibla z \u00dastavu biochemie a experiment\u00e1ln\u00ed onkologie 1. l\u00e9ka\u0159sk\u00e9 fakulty Univerzity Karlovy v Praze. Panel obsahuje 226 c\u00edlov\u00fdch gen\u016f pro vy\u0161et\u0159ov\u00e1n\u00ed heredit\u00e1rn\u00edch malignit metodou sekvenov\u00e1n\u00ed nov\u00e9 generace (Next Generation Sequencing \u2013 NGS) \u2013 zde najdete <a href=\"\/wp-content\/uploads\/2025\/04\/SE.GP-21-v001-Referencni-sekvence.pdf\">Seznam referen\u010dn\u00edch sekvenc\u00ed<\/a>. Umo\u017e\u0148uje anal\u00fdzu v\u0161ech dosud zn\u00e1m\u00fdch predispozi\u010dn\u00edch gen\u016f (cca 69 gen\u016f), jejich\u017e mutace jsou p\u0159\u00ed\u010dinou d\u011bdi\u010dn\u00fdch n\u00e1dorov\u00fdch onemocn\u011bn\u00ed (nap\u0159. geny ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53, CDKN2A, CDK4 a \u0159ada dal\u0161\u00edch). Ostatn\u00ed geny obsa\u017een\u00e9 v panelu reprezentuj\u00ed kandid\u00e1tn\u00ed geny pro preklinick\u00e9 studie v r\u00e1mci \u010desk\u00e9 populace.<\/p><p><em>Indikationen zur Untersuchung:<\/em><\/p><ul><li>Tumorerkrankung in ungew\u00f6hnlich jungem Alter<\/li><li>Personen mit verschiedenen Krebsarten<\/li><li>Auftreten bilateraler Tumoren in paarigen Organen<\/li><li>wiederholtes Auftreten der gleichen Krebsart (z. B. Brustkrebs oder Dickdarm- und Enddarmkrebs) in der Familie<\/li><li>kombinace ur\u010dit\u00fdch typ\u016f n\u00e1dor\u016f u bl\u00edzk\u00fdch p\u0159\u00edbuzn\u00fdch (karcinom prsu a vaje\u010dn\u00edk\u016f, karcinom st\u0159eva a d\u011blohy), zvl\u00e1\u0161t\u011b pak v p\u0159\u00edpadech, kdy k manifestaci onemocn\u011bn\u00ed do\u0161lo v mlad\u0161\u00edm v\u011bku<\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-accordion-item\">\n\t\t\t\t\t<div id=\"elementor-tab-title-94315\" class=\"elementor-tab-title\" data-tab=\"15\" role=\"button\" aria-controls=\"elementor-tab-content-94315\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon elementor-accordion-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-closed\"><i class=\"fas fa-plus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-accordion-icon-opened\"><i class=\"fas fa-minus\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-accordion-title\" tabindex=\"0\">Deletionsuntersuchung im SMN1- und SMN2-Gen<\/a>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t<div id=\"elementor-tab-content-94315\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"15\" role=\"region\" aria-labelledby=\"elementor-tab-title-94315\"><p>Spin\u00e1ln\u00ed muskul\u00e1rn\u00ed atrofie (SMA) je druhou nej\u010dast\u011bj\u0161\u00ed p\u0159\u00ed\u010dinou \u00famrt\u00ed d\u011bt\u00ed na autozom\u00e1ln\u011b recesivn\u00ed onemocn\u011bn\u00ed (incidence 1 na 10000 \u017eiv\u011b narozen\u00fdch d\u011bt\u00ed). Frekvence heterozygot\u016f, tedy zdrav\u00fdch p\u0159ena\u0161e\u010d\u016f onemocn\u011bn\u00ed, v populaci je 1:47.<\/p><p>SMA je autozom\u00e1ln\u011b recesivn\u00ed nervosvalov\u00e9 onemocn\u011bn\u00ed, p\u0159i kter\u00e9m doch\u00e1z\u00ed k degeneraci m\u00ed\u0161n\u00edch roh\u016f. P\u0159\u00ed\u010dinou je mutace v genu SMN1. U v\u00edce ne\u017e 95% pacient\u016f se jedn\u00e1 o homozygotn\u00ed bialelickou deleci SMN1 detekovanou pomoc\u00ed exonu 7. Krom\u011b genu SMN1 se nach\u00e1z\u00ed na stejn\u00e9m chromosomu (Chromosom 5) vysoce homologn\u00ed pseudogen SMN2. V\u011bt\u0161ina jeho transkript\u016f v d\u016fsledku z\u00e1m\u011bny 840C&gt;T postr\u00e1d\u00e1 exon 7. Protein produkovan\u00fd t\u00edmto genem nesta\u010d\u00ed k zabr\u00e1n\u011bn\u00ed onemocn\u011bn\u00ed, nicm\u00e9n\u011b dosta\u010duje k modifikaci fenotypu. Stanoven\u00ed po\u010dtu kopi\u00ed genu SMN2 m\u00e1 v\u00fdznam pro SMA pacienty, proto\u017ee \u010d\u00edm v\u00edce kopi\u00ed pacient m\u00e1, t\u00edm jsou p\u0159\u00edznaky onemocn\u011bn\u00ed m\u00edrn\u011bj\u0161\u00ed.<\/p><p>Vy\u0161et\u0159en\u00ed prov\u00e1d\u00edme metodou MLPA ke stanoven\u00ed velk\u00fdch delec\u00ed a duplikac\u00ed, pomoc\u00ed kter\u00e9 jsme schopni detekovat po\u010det kopi\u00ed exonu 7 a 8 v genu SMN1 i v pseudogenu SMN2.<\/p><p><em>Indikationen zur Untersuchung:<\/em><\/p><ul><li>Gametenspender<\/li><li>Pr\u00e4konzeptionelle Untersuchung<\/li><li>Personen mit einer neuromuskul\u00e4ren Erkrankung<\/li><li>Familien mit Vorkommen der SMA und Angeh\u00f6rige von bereits diagnostizierten SMA-Tr\u00e4gern<\/li><\/ul><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-8e23982 e-flex e-con-boxed e-con e-parent\" 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class=\"elementor-element elementor-element-2db3127 elementor-widget elementor-widget-spacer\" data-id=\"2db3127\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"spacer.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-spacer\">\n\t\t\t<div class=\"elementor-spacer-inner\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>","protected":false},"excerpt":{"rendered":"<p>Na\u0161e laborato\u0159 byla zalo\u017eena v&nbsp;roce&nbsp; 2003.&nbsp;Od&nbsp;t\u00e9 doby neust\u00e1le expanduje jak po&nbsp;str\u00e1nce person\u00e1ln\u00ed, tak z&nbsp;hlediska p\u0159\u00edstrojov\u00e9ho vybaven\u00ed a&nbsp;spektra prov\u00e1d\u011bn\u00fdch metod. D\u00edky kvalitn\u00edmu p\u0159\u00edstrojov\u00e9mu vybaven\u00ed&nbsp; na\u0161\u00ed laborato\u0159e jsme schopni prov\u00e1d\u011bt molekul\u00e1rn\u011b genetick\u00e1 vy\u0161et\u0159en\u00ed v&nbsp;souladu s&nbsp;nov\u00fdmi diagnostick\u00fdmi trendy. Prov\u00e1d\u00edme detekci zn\u00e1m\u00fdch mutac\u00ed za&nbsp;pomoci PCR, resp. Real Time PCR a&nbsp; detekci mutac\u00ed p\u0159\u00edm\u00fdm sekvenov\u00e1n\u00edm&nbsp; k&nbsp;diagnostice monogenn\u011b d\u011bdi\u010dn\u00fdch chorob. D\u00e1le [&hellip;]<\/p>","protected":false},"author":9,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"service-area":[44],"class_list":["post-7417","page","type-page","status-publish","hentry","service-area-molekularne-geneticka-laborator"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v20.2 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Molekul\u00e1rn\u011b-genetick\u00e1 laborato\u0159 | Genetika Plze\u0148<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/genetika-plzen.nullable.group\/de\/molekularni-laborator\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Molekul\u00e1rn\u011b-genetick\u00e1 laborato\u0159 | Genetika Plze\u0148\" \/>\n<meta property=\"og:description\" content=\"Na\u0161e laborato\u0159 byla zalo\u017eena v&nbsp;roce&nbsp; 2003.&nbsp;Od&nbsp;t\u00e9 doby neust\u00e1le expanduje jak po&nbsp;str\u00e1nce person\u00e1ln\u00ed, tak z&nbsp;hlediska p\u0159\u00edstrojov\u00e9ho vybaven\u00ed a&nbsp;spektra prov\u00e1d\u011bn\u00fdch metod. D\u00edky kvalitn\u00edmu p\u0159\u00edstrojov\u00e9mu vybaven\u00ed&nbsp; na\u0161\u00ed laborato\u0159e jsme schopni prov\u00e1d\u011bt molekul\u00e1rn\u011b genetick\u00e1 vy\u0161et\u0159en\u00ed v&nbsp;souladu s&nbsp;nov\u00fdmi diagnostick\u00fdmi trendy. Prov\u00e1d\u00edme detekci zn\u00e1m\u00fdch mutac\u00ed za&nbsp;pomoci PCR, resp. Real Time PCR a&nbsp; detekci mutac\u00ed p\u0159\u00edm\u00fdm sekvenov\u00e1n\u00edm&nbsp; k&nbsp;diagnostice monogenn\u011b d\u011bdi\u010dn\u00fdch chorob. 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D\u00edky kvalitn\u00edmu p\u0159\u00edstrojov\u00e9mu vybaven\u00ed&nbsp; na\u0161\u00ed laborato\u0159e jsme schopni prov\u00e1d\u011bt molekul\u00e1rn\u011b genetick\u00e1 vy\u0161et\u0159en\u00ed v&nbsp;souladu s&nbsp;nov\u00fdmi diagnostick\u00fdmi trendy. Prov\u00e1d\u00edme detekci zn\u00e1m\u00fdch mutac\u00ed za&nbsp;pomoci PCR, resp. Real Time PCR a&nbsp; detekci mutac\u00ed p\u0159\u00edm\u00fdm sekvenov\u00e1n\u00edm&nbsp; k&nbsp;diagnostice monogenn\u011b d\u011bdi\u010dn\u00fdch chorob. 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