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 for UPD15.  Angelman syndrome patients with normal methylation should consider sequencing for UBE3A.  This testing eliminates the need for additional FISH testing or imprinting center testing for these patients.

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 stature, and normal weight and appearance.  Mutations in the ASPM gene are the most common cause of MCPH.  Approximately 40% of patients (both consanguineous and non-consanguineous) with a strict diagnosis of MCPH have mutations in ASPM.  A small number of families with MCPH have been r