Lab News

We are now offering testing for the 3 known genes for Centronuclear/Myotubular Myopathy, MTM1, DNM2, and BIN1. 

We are  now offering full gene sequencing of the CASK gene.  Mutations in CASK have been reported in:

We are now offering full gene sequencing and deletion/duplication analysis of the MEF2C gene.  Mutations of the MEF2C gene have been identified in patients with severe mental retardation, stereotypic movements, hypotonia, and epilepsy.  Phenotypic overlap exists between patients with

We are now offering full gene sequencing and deletion/duplication analysis for Mowat-Wilson syndrome.  Mowat-Wilson syndrome is characterized by distinctive facial features, which in young children include hypertelorism, medially flared and broad eyebrows, prominent or pointed chin, uplifted earl

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