NGS of 13 gene panel: DCAF17, MYO5A, NAGA, PPOX, ROGDI, RPGRIP1L, SDCCAG8, SIL1, TBC1D24, UBR1, VPS13B, ZFYVE26, ZBTB24.

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Documentation:
Ref: LV3022 Categories: , , , , , , Diseases: Intellectual Disability autosomal recessive syndromes: Griscelli type 1, Schindler type I, III, Kanzaki, Porphyria variegata, Kohlschutter-Tonz, COACH, Senior-Loken, Marinesco-Sjogren, DOOR syGenes: SDCCAG8, ROGDI, ZFYVE26, RPGRIP1L, ZBTB24, DCAF17, SIL1, VPS13B, PPOX, UBR1, TBC1D24, MYO5A, NAGADelivery term: 42 days