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Genodiagnostics of spinal amyotrophy types I, II, III, IV

Average price: ≈160€
It is treated in 209 clinics
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Genodiagnostics of spinal amyotrophy types I, II, III, IV

Description

 Генодиагностика спинальной амиотрофии I, II, III, IV типов основана на изучении мутаций в гене SMN, расположенном в области 5q13.2. У гена 2 копии: теломерная - SMN1 и центромерная - SMN2. Диагностика сAM I-IV включает поиск делеций в 7 и 8 экзонах гена SMN1, определение количества копий гена SMN2. Возможна пренатальная диагностика спинальной амиотрофии.
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