Laboratory procedures are performed upon request of a licensed physician. Physician orders for laboratory testing may be written on a prescription blank and brought to the laboratory by the patient, or physicians may call the laboratory at 312.227.6350. Physicians may call our laboratory to obtain advice on the selection of appropriate tests for a patient. Help with interpretation of laboratory results and recommendations for subsequent evaluations or counseling are also available.
Chromosome analyses are performed on peripheral blood lymphocytes and include routine studies (GTG banding and karyotyping), fluorescent in situ hybridization (FISH) studies for identification of complex chromosomal rearrangements and microdeletion syndromes. Analyses are also performed on cultured skin fibroblasts and certain solid tissues. Common indications include multiple congenital anomalies, repeated pregnancy loss, intellectual disabilities, short stature or suspicion of a micro-deletion syndrome (e.g., Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis, DiGeorge/velocardiofacial or Williams syndrome).
Molecular testing for the Fragile X syndrome is routinely performed. PCR for estimation of repeat length is performed when needed. Common indications include intellectual disabilities and autism.
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. Common indications include intellectual disabilities, hypoglycemia, metabolic acidosis, unusual odor, episodes of lethargy or coma, and failure to thrive.
Common indications include short stature, intellectual disabilities, joint contractures, enlarged liver and corneal clouding.
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. When both members of a couple carry the gene, there is a 25% chance that any of their children will have Tay-Sachs disease. Learn more about diseases linked to Jewish ancestry.
Miscellaneous tests, including sugar chromatography, sialic acid quantitation and sulfites are available. Please call our laboratory at 312.227.6350 for more information.