November 15, 2012

New Next Generation Sequencing Panels for Lissencephaly

As of December 1st, 2012, UCGS will be offering several new tests:

The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Lissencephaly.

November 15, 2012

Exonic Deletion/Duplication analysis by olignucleotide array-CGH for 105 genes

As of December 1st, 2012, UCGS will be offering several new tests:

The University of Chicago Genetic Services Introduces additional Exonic Deletion/Duplication analysis by oligonucleotide array-CGH.

November 15, 2012

A New Entry into the World of Genes for Pontocerebellar Hypoplasia

Maria*, a very sick little girl from Puerto Rico, was admitted to the Boston Children’s Hospital (BCH) with extreme failure to thrive.  She had a history of severe developmental delays and microcephaly after spasticity and arthrogryposis were identified at birth.  In

November 15, 2012

Where are they Now? Eden Haverfield, Ph.D.

The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clinical molecular genetics and clinical cytogenetics.

November 15, 2012

Coding Corner - the New 2013 Molecular CPT codes

According to the American Medical Association, the New 2013 Molecular CPT Codes will go into effect January 1, 2013.  These new codes will replace the old system for coding molecular pathology procedures known as “stacking codes” (83890 – 83914), which focus on method

October 15, 2012

Upcoming conferences

Come visit us in the exhibitor hall at the following upcoming conferences:

NSGC 31st Annual Education Conference in Boston Massachusetts

October 24 - 27, Hynes Convention Center, Booth 405

October 15, 2012

The University of Chicago Genetic Services Announces Expanded Testing for Cornelia de Lange syndrome (now including SMC3, RAD21 and HDAC8)

The University of Chicago Genetic Services is a leader in providing clinical genetic testing for Cornelia de Lange syndrome (CdLS).

October 15, 2012

Molecular characterization and genotype/phenotype correlation of ten patients with structural rearrangements in the NIPBL gene.

This poster (#3090F) will be presented at the 62nd Annual Meeting of the American Society of Human Genetics by Yu-Wei Cheng, our molecular fellow, Friday November 9: 3:15pm-4:15pm.  Stop by and learn more.

October 15, 2012

Principles and Informatic Infrastructure for Implementing Diagnostic Next-Generation Sequencing for Genetically Heterogeneous Conditions

This poster (#1737W) will be presented at the 62nd Annual Meeting of the American Society of Human Genetics by Scott Topper, assistant director of UCGS, Wednesday November 7: 2:15pm-3:15pm.  Stop by and learn more

October 15, 2012

Meet our New Assistant Director, Scott Topper

[img_assist|nid=379|title=|desc=|link=none|align=left|width=175|height=233]We are proud to announce the newest addition to our staff, Dr. Scott Topper.  Dr.

September 13, 2012

New Next Generation Sequencing Panels for Polymicrogyria, Cerebellar Hypoplasia and Warburg Micro Syndrome

We are offering three new brain malformation panels:

September 13, 2012

Potentials Foundation - a support group for individuals and families with microcephalic primordial dwarfism

The University of Chicago Genetic Services provides testing for microcephalic primordial dwarfism.  Here is an article by The Potentials Foundation president, Bob Walker, describing his organizations mandate and mission to support families with these conditions.   

September 13, 2012

Where are they now? Shalini Reshmi, Ph.D.

The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clinical molecular genetics and clinical cytogenetics.

August 13, 2012

New Next Generation Sequencing Panels for Non-syndromic Intellectual Disability

The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Non-syndromic Intellectual Disability.

August 13, 2012

Complex rearrangement of MTM1: a case for deletion/duplication testing when there is a strong clinical suspicion of myotubular myopathy and conventional sequencing is negative

Myotubular myopathy (MTM) is one of the most severe neuromuscular disorders of childhood, typically presenting at or around the time of birth with profound hypotonia, severe extremity weakness, progressive ophthalmoparesis, and, often, respiratory failure.  The diagnos

August 13, 2012

Meet the Team - Darrel Waggoner, M.D.

Darrel J. Waggoner, M.D., FACMG is the Medical Director of the UCGS and Professor of Human Genetics and Pediatrics at the University of Chicago. Dr. Waggoner specializes in the treatment of metabolic and genetic disorders in children and adults.

August 13, 2012

Where are they Now? Ghayda Mirzaa, M.D., and Jelena Brezo, Ph.D.

The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clinical molecular genetics and clinical cytogenetics. The Department of Human Genetics has American Board of Medical Genetics accredited training programs in clini

July 16, 2012

New Tests! New Requisition Form! New Fax Number!

Many new things are afoot at The University of Chicago Genetic Services:

New Tests!

July 16, 2012

Mountain of Strength

July 16, 2012

Meet the Team - Daniela del Gaudio Ph.D.

Up next in our continuing series highlighting the many members of the UCGS lab is Daniela del Gaudio, Ph.D., associate director of the University of Chicago Genetic Services.  Dr. del Gaudio received her PhD.