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Genodiagnostics of Stickler syndrome

Average price: ≈875.3€
It is treated in 42 clinics
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Genodiagnostics of Stickler syndrome

Description

 Генодиагностика синдрома Стиклера позволяет подтвердить наследственную природу коллагенопатии и определить ее клинический вариант. Существует 5 типов врожденной прогрессирующей артроофтальмопатии (синдром Стиклера): тип I (ген сOL2A1 - кодирует цепь коллагена α-1), типы II и III (гены сOL11A1 и сOL11A2 - коды коллагена α-1-11). цепь), типы IV и V (гены сOL9A1 и сOL9A2 - кодируют цепь α-1 коллагена 9 типа). Синдром Стиклера характеризуется черепно-лицевыми аномалиями, патологией глаз, дегенеративными изменениями суставов и потерей слуха.
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