Genetics Laboratories

The Genetics Laboratories offers 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.  The Genetic Laboratories also offers consultative services for genetic testing to assure appropriate and cost effective laboratory test utilization.

Laboratories include:

Cytogenetics Laboratory

The Cytogenetics Laboratory studies chromosome morphology. In conjunction with the Molecular Genetics Laboratory, microarray testing is also offered to further evaluation 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.    

Medical Director:  Joel Charrow, MD
Scientific Director: Katrin Carlson, PhD
Manager: Nancy Balkin, CG(ASCP)CM
Telephone: 312.227.6042

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. It also performs enzyme assays to comprehensively diagnose a variety of metabolic disorders, such as galactosemia and many lysosomal storage disorders.

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. Enzyme Assays Enzyme assays for lysosomal storage diseases, galactosemia, galactokinase and other disorders are performed on peripheral blood leukocytes and cultured skin fibroblasts. We request that physicians check with the laboratory before requesting one of the analyses, in order to determine the type of specimen and quantity needed. Some of the tests must be scheduled in advance, and specimens cannot be collected on weekends or holidays. Tay-Sachs Carrier Testing Tay-Sachs carrier testing is performed on serum and peripheral blood leukocytes from adults (especially those with Ashkenazi Jewish ancestry) to determine if they carry the Tay-Sachs disease gene. Miscellaneous Tests Miscellaneous tests, including sugar chromatography, sialic acid quantitation and sulfites are available. Please call our laboratory at 312.227.6350 for more information.

Medical Director:  Joel Charrow, MD
Manager:  Nancy Balkin, CG(ASCP)CM
Telephone: 312.227.6042

Molecular Genetics Laboratory

The Molecular Genetic Laboratory provides a broad range of diagnostic services for inherited and acquired genetic disorders using a variety of techniques and technologies including: microarray analysis, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis, methylation analysis, digital PCR, dideoxy sequencing, and next generation sequencing panels.

Testing can be performed on purified nucleic acids (DNA or RNA), peripheral blood, bone marrow, buccal swabs, body fluids, and fresh, frozen, or paraffin-embedded tissues. For questions or to set up service, please call 312.227.6130 or e-mail

Administrative director: Jigyasa Tuteja, PhD
Assistant director: Kailee Yap, PhD
Coordinator:  Julie Czech

Genetic Testing Support Services

Consultative services regarding appropriate genetic testing, are available to all Lurie 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 Genetics Laboratory as well as various reference laboratories.

In addition, Genetic Testing Support Services also provide immediate and appropriate genetic counseling to our patient families as needs arise during non-genetics appointments or clinics.

Genetic Counselor: Elizabeth Leeth, MS
Scientific Director: Katrin Carlson, PhD

HLA & Immunogenetics

The HLA and Immunogenetics Laboratory performs DNA-based tissue typing for the Stem Cell Transplant Program at Lurie Children's. It is accredited, registered or licensed by the following organizations to perform high-complexity testing:

  • American Society for Histocompatibility and Immunogenetics (ASHI)
  • Clinical Laboratory Improvement Act of 1988 (CLIA)
  • National Marrow Donor Program (NMDP)

The services this laboratory provides includes the following:

  • HLA low-resolution typing by PCR-SSOP: HLA-A, B, C, DRB1, DQA1, DQB1
  • HLA high-resolution typing by SBT: HLA-A, B, C, DRB1, DQB1
  • Disease-associated HLA typing: B27, B5701, DQ2, DQ8 et al.
  • Chimerism analysis by STR

DNA-typing can be performed on peripheral blood, bone marrow, cord blood, or buccal brushes. For your convenience, a special collection kit with instructions can be sent directly to recipients or donors. For questions or to set up service, please call 312.227.6130 or e-mail

Director: Larry Jennings, MD, PhD
Manager:  Victoria Harris, MBA, MT(ASCP)
Telephone: 312.227.8373