Secuenciación masiva panel de 12 genes: AP1S1, ATP13A2, C12orf57, CA2, CA6, DHCR7, DYM, FLVCR1, HOXA1, IRX5, KIF1BP, MKKS

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Ref: LV3021 Categories: , , , , , , Diseases: Discapacidad Intelectual, síndromes autosómicos recesivos: Mednik, Kufor-Rakeb, Temtamy, Marble Brain disease, Smith-Lemli-Opitz , Dyggve-Melchior-Clausen, Displasia de Smith-McCort, Ataxia Genes: CA2, HOXA1, AP1S1, C12ORF57, MKKS, CA6, DYM, ATP13A2, FLVCR1, DHCR7, IRX5, KIF1BPDelivery term: 42 days