Uuritavad muutused: MLPA analüüsiluuritakse eksonite deletsioone ja duplikatsioone erinevates geenides. Soovitav on konsulteerida eelnevalt geneetika ja personaalmeditsiini kliiniku molekulaardiagnostika spetsialistidega, et täpsustada kas soovitud geeni on võimalik uurida MLPA meetodil ja kas vastavad diagnostikumid on laboris olemas.
Uuritav materjal, selle võtmine, saatmine ja säilitamine
Elektroonsel tellimisel märkida ära uuritav(ad) geen(id). Elektroonse tellimise võimaluse puudumisel tuleb koos uuritava materjaliga saata molekulaardiagnostika laborisse ka täidetud tellimisleht – Eksonite deletsioonid ja duplikatsioonid valitud geenides (MLPA), tellimisel märkida ära uuritav(ad) geen(id).
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