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.
April 18, 2011
A Clinician's Experience with Genetic Testing for Kabuki Syndrome
By: Helga Toriello, PhD, FACMG
March 4, 2011
Kabuki Hour at ACMG Conference
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.
Featuring
March 4, 2011
ACMG Annual Clinical Genetics Meeting March 16-20 Vancouver
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
March 4, 2011
FOXG1 Syndrome: More than a congenital variant of Rett Syndrome?
Rachelle Lorenz¹, Amy Goldstein², Sulagna Saitta³, Laurence E. Walsh4, Soma Das¹, William B Dobyns5.
March 4, 2011
Large-panel Gene Sequencing for the Rapid Diagnosis of Non-Syndromic Neurological Disease
Scott Topper, Viswateja Nelakuditi, Melissa A. Dempsey, Jelena Brezo, Soma Das
March 4, 2011
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
February 16, 2011
Meet our New Associate Director - Daniela del Gaudio
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.
February 11, 2011
Additional Testing for Autosomal Recessive Microcephaly
We are now offering testing for 7 genes associated with autosomal recessive microcephaly. Autosomal recessive primary microcephaly (MCPH) is characterized by:
January 13, 2011
New Testing for Kabuki Syndrome
Patients with Kabuki syndrome have characteristic facial features, short stature, congenital heart defects, skeletal anomalies, immunological abnormalities, and mild to moderate mental retardation.
January 11, 2011
Survey on Educational Strategies
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!
December 30, 2010
NEW TESTING FOR SLC2A1
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
August 24, 2010
New Comprehensive Testing for Centronuclear/Myotubular Myopathy
We are now offering testing for the 3 known genes for Centronuclear/Myotubular Myopathy, MTM1, DNM2, and BIN1.
August 18, 2010
New test: CASK sequencing
We are now offering full gene sequencing of the CASK gene. Mutations in CASK have been reported in:
August 12, 2010
New test: MEF2C sequencing and deletion testing
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
August 12, 2010
New test: ZEB2 testing for Mowat-Wilson syndrome
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
May 11, 2010
New Atypical Rett/Angelman Syndrome Panel
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.