Genodiagnostics of Andermann syndrome (SLC12A6 gene)

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Genodiagnostics of Andermann syndrome (SLC12A6 gene) (Selected) ≈0€
Darsonvalization extra - cavity≈5.7€
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Gene diagnostics of Art syndrome (PRPS1 gene)≈115.7€
Gene diagnostics of Duchenne and Becker muscular dystrophy (DMD gene)≈101.4€
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Gene diagnostics of Rett syndrome (MECP2 gene)≈59.4€
Gene diagnostics of Strumpel's spastic paraplegia≈40.7€
Gene diagnostics of Thomsen, Becker myotonia (CLCN1 gene)≈49.5€
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Gene diagnostics of glycine encephalopathy≈247.9€
Genodiagnostics of Aicardi-Gutierrez syndrome≈1.1€
Genodiagnostics of Charcot-Marie-Toute disease≈121.6€
Genodiagnostics of Finkel's spinal amyotrophy≈80€
Genodiagnostics of Gallervorden-Spatz disease (PANK2 gene)≈31.8€
Genodiagnostics of Huntington's disease (chorea) (HTT gene)≈15.6€
Genodiagnostics of Huntington's-like disease≈7.7€
Genodiagnostics of Kennedy's disease (AR gene)≈18.2€
Genodiagnostics of Pallister-Hall syndrome≈574.7€
Genodiagnostics of Refsum disease (PHYH gene)≈0€
Genodiagnostics of Walker-Warburg syndrome≈74€
Genodiagnostics of X-linked spinal amyotrophy (UBA1 gene)≈22.9€
Genodiagnostics of ataxia-telangiectasia (Louis-Bar syndrome)≈0€
Genodiagnostics of cerebellar ataxia≈24.1€
Genodiagnostics of holoprosencephaly≈58.3€
Genodiagnostics of hypomyelin leukodystrophy≈87.3€
Genodiagnostics of myotonic dystrophy≈23.2€
Genodiagnostics of primary progressive aphasia (GRN gene)≈94€
Genodiagnostics of prion diseases (PRNP gene)≈87.4€
Genodiagnostics of spinal amyotrophy types I, II, III, IV≈5.9€
Genodiagnostics of spinal amyotrophy with diaphragm paralysis≈485.1€
Genodiagnostics of spinocerebellar ataxia≈30€
Genodiagnostics of torsion dystonia≈25.2€
Genodiagnostics of tuberous sclerosis (TSC1 and TSC2 genes)≈46.9€

Description

Генодиагностика синдрома Андермана позволяет выявить наследственное заболевание, вызванное мутациями в гене SLC12A6 в локусе 15q13-q15. Кодируемый им белок находится на клеточной мембране и участвует в переносе ионов калия. Наряду с дефектами генов развивается синдром Андермана, который характеризуется агенезией мозолистого тела, олигофренией и сенсомоторной нейропатией.

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