Ceroidolipofuscynoza. Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES)

Numer badania: 5297

Cena brutto: 13600

Nazwa punktu pobrań: Punkt Pobrań Centrum Medyczne Medici

Materiał do badania: Krew EDTA 1 probówka (stabilność: temp. 2-8°C do 5 dni

Ile dni wynik: 75

Wykrywa mutacje CLN1–CLN14. Wskazania: regres psychoruchowy, drgawki i utrata wzroku u dzieci; CLN2 kwalifikuje do cerliponazy alfa.

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Ceroidolipofuscynoza. Analiza przesiewowa sekwencji kodującej genów, związanych z występowaniem objawów klinicznych, wykonywana na podstawie badania pełnoeksomowego (WES)

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