Neurodevelopmental | The University of Chicago Genetic Services

2-Hydroxyglutaric Aciduria Panel

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3'untranslated region in the MECP2 duplication phenotype.

Autosomal Recessive Non-Specific Intellectual Disability Panel

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome.

Imprinting Center (IC) Deletion Analysis for Angelman syndrome

Imprinting Center (IC) Deletion Analysis for Prader-Willi syndrome

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

Intellectual Disability Exome