Center for Genomics

The Center for Genomics at Ann & Robert H. Lurie Children’s Hospital of Chicago is a CLIA-certified high complexity genetic testing facility that offers our patients and clinicians:

• An expansive test menu of cytogenetic, molecular and biochemical testing for the diagnosis of inherited disorders, as well as providing cytogenetic and molecular testing for the identification and classification of hematopoietic and soft tissue malignancies. 
• Consultative services for genetic testing to ensure appropriate and cost effective laboratory test utilization by the Genetic Testing and Counseling (GTAC) Support Center. 

Our staff is comprised of board certified molecular geneticists, cytogeneticists, biochemical geneticists, physicians, genetic counselors, PhD level genomic analysts, bioinformaticians, and research technologists.

Please contact us at centerforgenomics@luriechildrens.org for more information.

 

Our Leadership Team

• Katrin Leuer, PhD – Director of Cytogenetics & Genetic Testing and Counseling Support Center
• Kai Lee Yap, PhD, FACMG – Director of Molecular Diagnostics
• Aida I. Richardson, MD, PhD – Associate Director of Molecular Diagnostics
• Pamela A. Rathbun, PhD – Assistant Director of Molecular Diagnostics and Cytogenetics
• Sonia Benhamed, PharmD – Director of Advanced Technologies & Operations

Our Laboratories

Biochemical Genetics Laboratory

The Biochemistry Laboratory analyzes amino acid and organic acid levels for the diagnosis and monitoring of patients with inborn errors of intermediary metabolism. Amino Acid Analysis & Organic Acid Analysis Amino acid analysis (blood, urine, CSF) and organic acid analysis (urine) are performed using state-of-the-art methodology and instrumentation.

Manager: Faye Vicente
Email:  fvicente@luriechildrens.org
Telephone: 312.227.6070

Cytogenetics Laboratory

The Cytogenetics Laboratory studies chromosome morphology. In conjunction with the Molecular Diagnostics Laboratory, microarray testing is also offered to further evaluate the genetic constitution of children with clinical disorders. The Cytogenetics Laboratory also processes specimens for the study of hematologic and soft tissue malignancies.

In addition to the morphologic evaluation of chromosomes, the lab also performs the molecular cytogenetic technique of fluorescence in situ hybridization (FISH). FISH analysis allows for the identification of specific chromosome abnormalities that are beyond the resolution of a standard morphologic evaluation. The laboratory also serves as a cell culture facility for specimens that need specialized (non-cytogenetic) testing.    

Manager: Rutika Puranik, Msc
Email: rpuranik@luriechildrens.org 
Telephone: 312.227.2906

Molecular Diagnostics Laboratory

The Molecular Diagnostics Laboratory provides a broad range of diagnostic services for the study of inherited and acquired genetic disorders using a variety of techniques and technologies. These include the following:

• Next Generation Sequencing (NGS) gene panels on the Illumina and Ion Torrent platforms, for the diagnosis of inherited constitutional disorders and detection of somatic variants associated with pediatric malignancies.
• Realtime-PCR and NGS-based RNA fusion panels for the detection of fusion transcripts associated with pediatric malignancies.
• NGS, Microarray and Multiplex Ligation-dependent Probe Amplification (MLPA) analyses for the detection of genomic copy number variants.
• PCR and gel electrophoresis for the sizing of trinucleotide repeat expansions associated with Fragile X syndrome, short tandem repeats (STRs) for chimerism analysis, and methylation status analysis for the diagnosis of Prader-Willi/Angelman syndrome.

Testing can be performed on purified nucleic acids (DNA and/or RNA) derived from peripheral blood, bone marrow, buccal swabs, saliva, and fresh, frozen, or paraffin-embedded tissues. Please contact the laboratory at 312.227.6130.

Laboratory genetic counselors: Alexander Ing, MS CGC

Laboratory genomic analyst: Alissa Wlodaver, PhD

Manager: Rutika Puranik, Msc
Email: rpuranik@luriechildrens.org 
Telephone: 312.227.2906

Genetic Testing and Counseling (GTAC) Support Center

The Genetic Testing and Counseling (GTAC) Support Center provides consultative services regarding appropriate genetic testing and is available to all Lurie Children's affiliated providers. The goal of this service is to provide the most appropriate and cost effective testing strategies for our patients, while minimizing the need for ordering providers to keep abreast of the advances in genetic testing methodologies and the ever changing test menus of the Lurie Children’s Molecular Diagnostics Laboratory as well as the various reference laboratories. The Support Center also provides guidance for navigating the insurance precertification process by providing CPT codes, gene lists and template letters of medical necessity. In addition, in collaboration with the Division of Genetics, Birth Defects and Metabolism, the Support Center provides immediate and appropriate genetic counseling to our patient families as needs arise during non-genetics appointments or clinics and offers the opportunity for patients to be seen by appointment in the Lurie Children’s Genetic Counseling Clinic.

Genetic counselors: Lennika (Leni) DeSimone, MS CGC, and Shelly McQuaid, MS CGC 
Email: GeneticLabGC@luriechildrens.org
Phone: 312.227.6008

Research and Collaboration

Our center is dedicated to providing the most advanced, highest quality genetic testing services and working with our institution to best meet the needs of our clinicians in a constantly changing field. We welcome opportunities to collaborate on research projects or development of additional tests. Please contact us at centerforgenomics@luriechildrens.org

The Center for Genomics submits variant level data and interpretations to ClinVar on a regular basis.