April 9, 2013

New Next Generation Sequencing Panel for Rett and Angelman syndrome

The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Rett and Angelman syndrome.

April 9, 2013

New Next Generation Sequencing Panel for Neonatal Diabetes and Maturity-Onset Diabetes of the Young

The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Neonatal Diabetes and Maturity-Onset Diabetes of the Young

April 9, 2013

New Next Generation Sequencing Panels for Lipodystrophies

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

March 13, 2013

Upcoming conference

Come visit us in the exhibitor hall at the 2013 American College of Medical Genetics Annual Clinical Meeting in Phoenix, AZ

March 20-22, Phoenix Convention Center, Booth 623

March 13, 2013

Development of a Next Generation Sequencing-based Assay for the Molecular Characterization and Diagnosis of Monogenic Diabetes Mellitus

This poster (#0380) will be presented at the ACMG Annual Clinical Genetics Meeting by Daniela del Gaudio, our associate lab director, Thursday March 21: 10:30am-11:30am.  Stop by and learn more

March 13, 2013

Beyond Consanguinity - the first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient

This poster (#0107) will be presented at the ACMG Annual Clinical Genetics Meeting by Chris Tan, our genetic counselor, Thursday March 21: 10:30am-11:30am.  Stop by and learn more

March 13, 2013

L-2-hydroxyglutaric aciduria in an adolescent male with mild cognitive impairment.

This poster (#0302) will be presented at the ACMG Annual Clinical Genetics Meeting by Amy Knight Johnson, our genetic counselor, Friday March 22: 10:30am-11:30am.  Stop by and learn more

February 15, 2013

New Next Generation Sequencing Panels for Joubert and Meckel-Gruber syndrome

The University of Chicago Genetic Services Introduces New Next Generation Sequencing Panels for Joubert and Meckel-Gruber syndrome.

February 15, 2013

Updated Next Generation Sequencing Panels

We have updated and increased the genes in a number of our next-generation sequencing panels. 

Our Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel now includes sequencing of 8 genes: CASK, OPHN1, RARS2,  SEPSECS, TSEN2, TSEN34, TSEN54, VRK1

February 15, 2013

The Creation of the Floating Harbor Syndrome Support Group

The University of Chicago provides testing of the SRCAP gene for Floating Harbor syndrome.

February 15, 2013

Where are they Now? Asem Alkhateeb, Ph.D

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

January 16, 2013

CHIME syndrome

CHIME syndrome is a rare autosomal recessive neuroectodermal syndrome recently identified as a disorder of glycosylation secondary to mutations in PIGL (Ng et al, Am J Hum Genet 90:685-688, 2012).

January 16, 2013

Coding Corner Update

Happy New Year!  Our New 2013 Molecular Pathology CPT Codes are now in effect.  Please visit our website at www.dnatesting.uchicago.edu to obtain a listing of our new codes and tests.

December 18, 2012

Director's Cut - Reflections on the Past Year

2012 has been a very exciting year for our laboratory with the launching of our first series of next generation sequencing (NGS)-based tests.  While the power of this technology is now well established, it has been very satisfying to experience it first hand and to se

December 17, 2012

The Coding Corner - Update on the New 2013 Molecular CPT codes

After months of consideration, the Center for Medicare & Medicaid Services (CMS) announced that the new 2013 Molecular Pathology CPT Codes (MPCC) will be paid under the Clinical Laboratory Fee Schedule (CLFS) using the gap-fill method.

December 17, 2012

Where are they Now? Shaochun Bai, Ph.D.

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

December 13, 2012

Holiday Reminder - December 25th and January 1st

The University of Chicago Genetic Services will be closed on Tuesday, December 25th for Christmas and will not be able to receive samples that day.  We will be open to receive samples on Monday, December 24th

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.