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Genodiagnostics of Aicardi-Gutierrez syndrome - clinics near the metro «Горьковская»

Average price: ≈285.4€

227€
+7(831..show+7(831) 214-25-25
+7(986) 725-25-25
МЦ ГеноМ на Верхне-Волжской набережной

Нижний Новгород; Верхне-Волжская наб., д. 2Б; M. Горьковская

Medical Services tree

Genodiagnostics of Aicardi-Gutierrez syndrome (Selected) ≈285.4€
Darsonvalization extra - cavity≈6.1€
Gene diagnostics of ALS≈89.7€
Gene diagnostics of Art syndrome (PRPS1 gene)≈273€
Gene diagnostics of Duchenne and Becker muscular dystrophy (DMD gene)≈190.8€
Gene diagnostics of Emery-Dreyfus muscular dystrophy≈288.1€
Gene diagnostics of Friedreich's ataxia (FXN gene)≈90.9€
Gene diagnostics of Martin's syndrome≈979.3€
Gene diagnostics of Rett syndrome (MECP2 gene)≈153€
Gene diagnostics of Strumpel's spastic paraplegia≈280.6€
Gene diagnostics of Thomsen, Becker myotonia (CLCN1 gene)≈127.8€
Gene diagnostics of Unferricht-Lundborg disease (CSTB gene)≈134.6€
Gene diagnostics of Wilson-Konovalov disease (ATR7B gene)≈97.5€
Gene diagnostics of glycine encephalopathy≈335.3€
Genodiagnostics of Andermann syndrome (SLC12A6 gene)≈281.3€
Genodiagnostics of Charcot-Marie-Toute disease≈184.2€
Genodiagnostics of Finkel's spinal amyotrophy≈137.1€
Genodiagnostics of Gallervorden-Spatz disease (PANK2 gene)≈85.1€
Genodiagnostics of Huntington's disease (chorea) (HTT gene)≈41.4€
Genodiagnostics of Huntington's-like disease≈39.8€
Genodiagnostics of Kennedy's disease (AR gene)≈46.5€
Genodiagnostics of Pallister-Hall syndrome≈621.6€
Genodiagnostics of Refsum disease (PHYH gene)≈269€
Genodiagnostics of Walker-Warburg syndrome≈170.3€
Genodiagnostics of X-linked spinal amyotrophy (UBA1 gene)≈64.2€
Genodiagnostics of ataxia-telangiectasia (Louis-Bar syndrome)≈260.1€
Genodiagnostics of cerebellar ataxia≈58.4€
Genodiagnostics of holoprosencephaly≈217.5€
Genodiagnostics of hypomyelin leukodystrophy≈248.4€
Genodiagnostics of myotonic dystrophy≈64.2€
Genodiagnostics of primary progressive aphasia (GRN gene)≈225.8€
Genodiagnostics of prion diseases (PRNP gene)≈152.2€
Genodiagnostics of spinal amyotrophy types I, II, III, IV≈160€
Genodiagnostics of spinal amyotrophy with diaphragm paralysis≈521.4€
Genodiagnostics of spinocerebellar ataxia≈66€
Genodiagnostics of torsion dystonia≈60.9€
Genodiagnostics of tuberous sclerosis (TSC1 and TSC2 genes)≈326.7€

Genodiagnostics of Aicardi-Gutierrez syndrome

Description

Генодиагностика синдрома Айкарди-Гутьерреса связана с секвенированием генов, связанных с заболеванием. Всего известно 6 генов, мутации которых сопровождаются развитием синдрома. Из них наиболее распространенными в клинической практике являются мутации TREX1 (ген экзонуклеазы, локус 3p21), RNASEH2B (ген субъединицы в рибонуклеазы H, локус 13q14), ADAR (ген фермента, катализирующего гидролитическое дезаминирование аденозина, локус 1q21. 3).

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