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 Precision Medicine 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.
Sonia Benhamed, PharmD - Director of Advanced Technologies & Operations
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.
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.
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:
Microarray and Multiplex Ligation-dependent Probe Amplification (MLPA) analysis for the detection of genomic copy number variants.
Sanger sequencing and Next Generation Sequencing (NGS) panels for the detection of genomic sequence changes and small insertions/deletions.
PCR and gel electrophoresis for the sizing of trinucleotide repeat expansions, short tandem repeats (STRs) for chimerism analysis, and methylation status analysis.
Realtime-PCR for the characterization of RNA fusion transcripts and gene expressions.
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, Casey Brew, MS CGC
An in-house team of bioinformaticians directed by Sabah Kadri, PhD, processes the high complexity next generation sequencing data generated by the Molecular Diagnostics laboratory.
Precision Medicine Support Center
The Precision Medicine 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 Molecular Diagnostics Laboratory as well as various reference laboratories.
In addition, the Support Center also provide immediate and appropriate genetic counseling to our patient families as needs arise during non-genetics appointments or clinics.
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 email@example.com
The Center for Genomics submits variant level data and interpretations to ClinVar on a regular basis.