NGS of 8 gene panel: CREBBP, FGFR2, FGFR3, HCCS, HDAC6, SLC35A3, TMCO1, ZBTB16

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Ref: LV3009 Categories: , , , , , , , , , Diseases: Mental retardation witn skeletal dysplasia: Apert; Beare-Stevenson cutis gyrata; Saethre-Chotzen; Muenke; FG 2; Rubinstein-Taybi; Craniofacial dysmorphism, skeletal anomalies, and MR;Genes: HCCS, CREBBP, FGFR2, FGFR3, HDAC6, ZBTB16, SLC35A3, TMCO1Delivery term: 42 days