NGS of 11 gene panel: ALDH18A1, CYP27A1, DKC1, ELOVL4, FGFR2, MBTPS2, NSDHL, PIGL, PORCN, PYCR1, VCX3A

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Ref: LV3020 Categories: , , , , , , , Diseases: Intellectual Disability in: Dyskeratosis congenita; Cerebrotendinous xanthomatosis; Ichthyosis, spastic quadriplegia, and mental retardation; IFAP syndrome with or without Bresheck syndrome;Genes: MBTPS2, ALDH18A1, FGFR2, PORCN, PIGL, ELOVL4, DKC1, CYP27A1, NSDHL, VCX3A, PYCR1Delivery term: 42 days