{"id":2854,"date":"2022-12-28T12:35:37","date_gmt":"2022-12-28T11:35:37","guid":{"rendered":"https:\/\/trisomytest.sk\/?page_id=2854"},"modified":"2023-01-30T13:29:28","modified_gmt":"2023-01-30T12:29:28","slug":"trisomy-test-complete-smithov-lemliho-opitzov-syndrom","status":"publish","type":"page","link":"https:\/\/trisomytest.sk\/hu\/trisomy-test-complete-smithov-lemliho-opitzov-syndrom\/","title":{"rendered":"TRISOMY test Complete +Smith-Lemli-Opitz szindr\u00f3ma"},"content":{"rendered":"

TRISOMY Teljes teszt<\/strong><\/p>\n<\/div><\/div>

+Smith-Lemli-Opitz szindr\u00f3ma<\/p>\n<\/div><\/div>

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A tesztr\u0151l<\/h3>\n<\/div><\/div>

A TRISOMY<\/strong> Teljes teszt\u00a0<\/strong>+Smith-Lemli-Opitz szindr\u00f3ma – egy kieg\u00e9sz\u00edt\u0151 vizsg\u00e1lat, amely a TRISOMY Teljes teszt (TTC) mell\u00e9 rendelhet\u0151. A kieg\u00e9sz\u00edt\u0151 vizsg\u00e1lat r\u00e9szek\u00e9nt a terhes n\u0151 kering\u0151 DNS-\u00e9t, bele\u00e9rtve a szabad magzati DNS-t is elemzik, \u00e9s ennek eredm\u00e9nyek\u00e9nt meghat\u00e1rozz\u00e1k a DHCR7 g\u00e9n kiv\u00e1lasztott mut\u00e1ci\u00f3inak jelenl\u00e9t\u00e9t, amelyek a szlov\u00e1k popul\u00e1ci\u00f3ban a Smith-Lemli-Opitz szindr\u00f3m\u00e1t okoz\u00f3 leggyakoribb mut\u00e1ci\u00f3k k\u00f6z\u00e9 tartoznak. A vizsg\u00e1lat megrendel\u00e9se el\u0151tt meg kell ismerni az aktu\u00e1lis Genetikai laborat\u00f3riumi vizsg\u00e1lati t\u00e1j\u00e9koztat\u00f3t<\/a><\/span>.<\/p>\n<\/div><\/div><\/div><\/div>

A vizsg\u00e1lat \u00e1ra<\/p>\n<\/div><\/div>

635 \u20ac<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

kromosz\u00f3ma rendelleness\u00e9gek<\/span><\/i><\/a><\/div>
\u00f6r\u00f6kletes betegs\u00e9gek<\/span><\/i><\/a><\/div><\/div>

Mit fog kimutatni?<\/p>\n<\/div><\/div>

A magzat DNS-\u00e9nek r\u00e9szletes elemz\u00e9s\u00e9nek k\u00f6sz\u00f6nhet\u0151en mind a 23 kromosz\u00f3map\u00e1r genetikai anyag\u00e1nak gyakoris\u00e1g\u00e1ban \u00e9s mennyis\u00e9g\u00e9ben rendelleness\u00e9geket t\u00e1r fel, mind a teljes kromosz\u00f3ma, mind a szubkromosz\u00f3ma szintj\u00e9n.<\/p>\n<\/div><\/div><\/div><\/div>

A 21-es, 18-as, 13-as kromosz\u00f3m\u00e1k leggyakoribb trisz\u00f3mi\u00e1in t\u00falmen\u0151en a kromosz\u00f3m\u00e1k, k\u00f6zt\u00fck a nemi kromosz\u00f3m\u00e1k sz\u00e1m\u00e1nak \u00fagynevezett ritka elv\u00e1ltoz\u00e1sait is felt\u00e1rja, amelyek a terhess\u00e9g alatti esetleges sz\u00f6v\u0151dm\u00e9nyekkel j\u00e1rhatnak.<\/p>\n<\/div><\/div><\/div><\/div>

A teszt k\u00e9pes kimutatni a del\u00e9ci\u00f3kat \u00e9s a duplik\u00e1ci\u00f3kat, amelyek t\u00f6bbnyire klinikailag jelent\u0151s magzati rendelleness\u00e9gekhez kapcsol\u00f3dnak. Ezek m\u00e1s, \u00e1ltal\u00e1nosan haszn\u00e1lt prenat\u00e1lis sz\u0171r\u00e9si m\u00f3dszerekkel nem mutathat\u00f3k ki.<\/p>\n<\/div><\/div><\/div><\/div><\/div>

Kimutatja a biok\u00e9miai prenat\u00e1lis sz\u0171r\u00e9s esetleges hamis pozit\u00edv eredm\u00e9nyeit.
\nMinimaliz\u00e1lja az amniocent\u00e9zis (magzatv\u00edz invaz\u00edv mintav\u00e9tele) sz\u00fcks\u00e9gess\u00e9g\u00e9t.<\/p>\n<\/div><\/div><\/div><\/div>

A DHCR7 g\u00e9n leggyakoribb mut\u00e1ci\u00f3i, amelyek Smith-Lemli-Opitz szindr\u00f3m\u00e1t okoznak.<\/p>\n<\/div><\/div><\/div><\/div>

\u00c9rdekl\u0151d\u00e9s eset\u00e9n meghat\u00e1rozza a magzat nem\u00e9t.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/section>

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A TRISOMY<\/strong> Teljes teszt<\/strong> a terhes n\u0151 saj\u00e1t k\u00e9r\u00e9s\u00e9re \u00e9s genetikai konzult\u00e1ci\u00f3t k\u00f6vet\u0151en is elv\u00e9geztetheti. A terhess\u00e9g 11. het\u00e9t\u0151l minden n\u0151 sz\u00e1m\u00e1ra alkalmas, ha:<\/p>\n<\/div><\/div>