May 18, 2011

New Research Consent Form

Our laboratory now has an IRB-approved Research Consent Form for patients that are interested in participating in further studies, should their clinical testing not reveal the etiology of their disorder.  We will no longer require a consent form for clinical testing.  Consent is only necessary, i

May 18, 2011

Jaeden's Journey of Diagnosis

Jaeden was born in March 2009.

May 18, 2011

The Cost-Effectiveness of Genetic Testing for Neonatal Diabetes

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

April 18, 2011

The FOXG1 Phenotype

BY:  William Dobyns, M.D.

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.


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

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


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