Next Generation Sequencing of 4 gene panel: ASXL1, RECQL4, RNU4ATAC, SOX2

Consult

Documentation:
Ref: LV2189 Categories: , , , , , , , , Diseases: Severe polymalformative disorders: Bohring-Opitz syndrome AD, Rothmund-Thomson syndrome, Microcephalic osteodysplastic primordial dwarfism, type I, Microphthalmia, syndromic 3.Genes: RECQL4, ASXL1, SOX2, RNU4ATACDelivery term: 42 days