Primordial Dwarfism is charcterized by growth that is profoundly restricted from early in deveopment which continues postnatally. In line with other parts of the body, most individuals with primordial dwarfism also have a reduction in head size in proportion to, or smaller than, their body size. Microcephalic Primordial Dwarfism is a heterogeneous group of disorders that include Seckel Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism and Meier-Gorlin syndrome. Core features of these groups include severe intrauterine and postnatal growth deficiency, severe postnatal short stature, primary microcephaly, characteristic facial features and variable intellectual disability.
Our Comprehensive Primordial Dwarfism Sequencing Panel includes sequence analysis of the following 16 genes: ATR, CDC6, CDT1, CENPJ, CEP152, CEP63, LARP7, LIG4, NIN, ORC1, ORC4, ORC6, PCNT, POC1A, RBBP8, RNU4ATAC. Deletion/duplication analysis is also available for the majority of these genes (with the exception of RNU4ATAC).
Any gene in the Comprehensive Primordial Dwarfism Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.