Dystrofia kończynowo-obręczowa typu 2A (LGMD2A), kalpainopatia. Analiza sekwencji kodującej genu CAPN3 z wykorzystaniem metod sekwencjonowania nowej generacji NGS.

Numer badania: 5079

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 mutacje kalpainy 3. Wskazania: postępujące osłabienie mięśni obręczy biodrowej i barkowej, wysokie CK, zmiany w biopsji.

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Dystrofia kończynowo-obręczowa typu 2A (LGMD2A), kalpainopatia. Analiza sekwencji kodującej genu CAPN3 z wykorzystaniem metod sekwencjonowania nowej generacji NGS.

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