The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Rett and Angelman syndrome.

Angelman and Rett syndrome are neurodevelopmental disorders with significant phenotypic overlap. Classic Rett syndrome [OMIM#312750] is a progressive disorder characterized by acquired microcephaly, loss of purposeful hand movements, and autistic behaviors, following a period of normal growth and development. Angelman syndrome [OMIM #105830] is characterized by functionally severe developmental delay or intellectual disability, movement or balance disorders of variable severity, behavioral uniqueness exemplified by apparent happy demeanor (frequent laughing/smiling) and easy excitability, and severe speech impairment .

Our New Rett/Angelman Syndrome Sequencing Panel includes sequencing of the 18 genes listed: ARX, ATRX, CDKL5, CNTNAP2, FOXG1, MECP2, MEF2C, MED17, NRNX1, OPHN1, PCDH19, PNKP, SLC2A1, SLC9A6, TCF4, TRAPPC9, UBE3A, ZEB2

Our New Rett/Angelman Syndrome Deletion/Duplication Panel includes deletion/duplication analysis of the 14 genes listed: ARX, CDKL5, FOXG1, MECP2, MEF2C, MED17, OPHN1, PCDH19, PNKP, SLC2A1, SLC9A6, TCF4, UBE3A, ZEB2.

We are pleased to add this comprehensive panel to our current catalogue of testing for Rett and Angelman syndrome which also includes:

Rett/Atypical Rett Syndrome Panel (MECP2, CDKL5, MEF2C and FOXG1 sequencing and deletion/duplication analysis)

Angelman Syndrome Tier 2 Panel (UBE3A, SLC9A6, MECP2, and TCF4 sequencing and deletion/duplication analysyis)