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Gene diagnostics of Martin's syndrome

Average price: ≈979.3€
It is treated in 275 clinics
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Gene diagnostics of Martin's syndrome

Description

 Генодиагностика синдрома Мартина-Белл предполагает проведение фрагментного анализа гена FMR1 в локусе Xq27.3. Синдром ломкой Х-хромосомы (Мартина-Белл) возникает по причине увеличения числа сGG-триплетных повторов в 5-нетранслируемой области гена. В рамках молекулярно-генетического исследования проводится определение экспансии повторов сGG, позволяющих выявить премутации, исключить либо подтвердить предполагаемый диагноз.
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