Neonatal diabetes mellitus is a rare form of diabetes, occurring in about 1 out of every 100,000 live births. It can be transient, eventually disappearing on its own, or permanent, potentially causing health complications throughout a child’s life.
By: Helga Toriello, PhD, FACMG
BY: Sarah Foye
BY: William Dobyns, M.D.
Friday, March 18, 2011 11am-noon
Vancouver Convention Center Exhibit Hall Booth #315
Meet with Kabuki syndrome experts and learn about our experience with MLL2 sequencing.
Come visit us at the ACMG Annual Clinical Genetic Meeting in Vancouver, British Columbia, Canada! We look forward to talking to meeting you.
Exhibitor Hall Booth #315
Rachelle Lorenz¹, Amy Goldstein², Sulagna Saitta³, Laurence E. Walsh4, Soma Das¹, William B Dobyns5.
Scott Topper, Viswateja Nelakuditi, Melissa A. Dempsey, Jelena Brezo, Soma Das
An overview of mutations and clinical spectrum in patients with ASPM-related primary microcephaly of different ethnicities: Perspectives from the Molecular Diagnostic Laboratory
Christopher Tan, Melissa Dempsey, Soma Das
We are proud to announce the newest addition to our staff, Dr. Daniela del Gaudio. Dr. del Gaudio received her PhD. in Clinical Molecular Biology from the University of Naples “Federico II”, Naples, Italy. Shortly after graduation, Dr.
We are now offering testing for 7 genes associated with autosomal recessive microcephaly. Autosomal recessive primary microcephaly (MCPH) is characterized by:
Patients with Kabuki syndrome have characteristic facial features, short stature, congenital heart defects, skeletal anomalies, immunological abnormalities, and mild to moderate mental retardation.
Our laboratory is dedicated to educating our clients about current testing methods and clinical recommendations. Over the years, we have used many avenues to keep our clientele informed. Please complete the following survey to let us know the best way to inform you!
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Seizures typically begin within the first 4 months of life following a normal bi
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