Lab services

The laboratory is located at Children's Memorial Hospital in Lincoln Park. Laboratory procedures are performed on the 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 773-880-4462.

Physicians may obtain advice on the selection of appropriate tests for a specific patient may be obtained by calling one of our geneticists at 773-880-4462.

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: Multiple congenital anomalies, repeated pregnancy loss, mental retardation, short stature, suspicion of a micro-deletion syndrome (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: Mental retardation, autism.
• Amino acid analysis (blood, urine, CSF) and organic acid analysis (urine) are performed using state-of-the-art methodology and instrumentation. Common indications: Mental retardation, hypoglycemia, metabolic acidosis, unusual odor, episodes of lethargy or coma, failure to thrive.
• Urinary Mucopolysaccharides Common indications: Short stature, mental retardation, joint contractures, enlarged liver, corneal clouding.
• Enzyme assays for lysosomal storage diseases, galactosemia, galactokinase and other disorders are performed on peripheral blood leukocytes and cultured skin fibroblasts. Physicians: Please check with the laboratory before requesting one of the analyses to determine the type of specimen and quantity needed. Some of these tests must be scheduled in advance; specimens can not be collected on week-ends or holidays.
• 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 (are heterozygous) for 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.

See http://www.jewishgenetics.org for more information on diseases linked to a Jewish ancestry.

• Miscellaneous tests, including sugar chromatography, sialic acid quantitation, sulfites are available. Please call the laboratory for more information.