There is broad clinical variability in the severity of Rett syndrome, including a milder variant of Rett syndrome. Infant girls with Angelman syndrome having seizures and severe speech impairment can resemble girls with Rett syndrome.
Infantile spasms involve momentary flexion of the neck, trunk, or extremities, onsetting within the first year of life and subsiding during late infancy. Affected children may develop other seizures and have severe developmental delays. West syndrome is the triad of infantile spasms, hypsarrhyt
We are excited that we have shorter turn-around-times for the following tests:
Our lab is now performing methylation-specific (MS) MLPA for Angelman and Prader-Willi syndromes. This testing will identify patients with abnormal methylation, large deletions and imprinting center deletions. Those patients with abnormal methylation, but no deletion, should pursue UPD testing
We are now offering full gene sequencing of the five known genes for autosomal recessive primary microcephaly (MCPH). Autosomal recessive primary microcephaly (MCPH) is characterized by congenital microcephaly, mental retardation (but no other neurological findings), normal or mildly short statu
Thanks to our new lab database, a nice scanner, and some great IT guys, our lab has completely gone paperless. Requisition forms are now scanned in to create an "electronic chart" for each patient. When complete, all results are uploaded to this "chart" as pdfs. Reports are electronically sign