Dystrofia mięśniowa Duchenne/Beckera (DMD/BMD). Analiza sekwencji całego regionu kodującego genu DMD z wykorzystaniem metod sekwencjonowania nowej generacji NGS.

Numer badania: 5080

Cena brutto: 8200

Nazwa punktu pobrań: Punkt Pobrań Centrum Medyczne Medici

Materiał do badania: Krew EDTA (kolor korka fioletowy) temp. 2-8°C do 5 dni

Ile dni wynik: 45

Wykrywa wszystkie typy mutacji w genie dystrofiny. Wskazania: chłopcy z podejrzeniem DMD/BMD po ujemnym badaniu MLPA.

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Dystrofia mięśniowa Duchenne/Beckera (DMD/BMD). Analiza sekwencji całego regionu kodującego genu DMD z wykorzystaniem metod sekwencjonowania nowej generacji NGS.

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