Lab News

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