NGS of 8 gene panel: ALX4, ATP7A, DYNC1H1, HCCS, IGBP1, L1CAM, YWHAE, ZIC3.

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Documentation:
Ref: LV3011 Categories: , , , , , , , Diseases: Agenesis of the corpus callosum with: Frontonasal dysplasia ; Microphthalmia, syndromic 7; Mental retardation 28; Menkes disease, Occipital horn syndrome, VACTERL association.Genes: HCCS, ALX4, IGBP1, YWHAE, ZIC3, ATP7A, DYNC1H1, L1CAMDelivery term: 42 days