Resurrection Medical Center
7447 West Talcott Avenue
Chicago, IL 60631
A full range of comprehensive genetic diagnostic services are available at RMC. These include both clinical consultation/genetic counseling and specialized laboratory diagnostic procedures.
Patients of all ages are accepted for evaluation of identified or suspected genetic disorders. Genetic disorders have a wide variety of symptoms, often with complex combinations of delayed motor and cognitive development, growth impairment, seizures, and a broad range of physical handicaps or other abnormalities. There are several thousand genetic disorders, most of which are extremely rare. Some of the more familiar examples include:
- Chromosome abnormalities: e.g., Down Syndrome, Turner Syndrome
- Multiple malformation syndromes: e.g., Marfan Syndrome, De Lange Syndrome, DiGeorge Syndrome, Noonan Syndrome
- Metabolic disorders: e.g., phenylketonuria, galactosemia, congenital adrenal hyperplasia, Tay Sachs disease, Hurler Syndrome, Gaucher Disease
- Skeletal disorders: e.g., Achondroplasia, Osteogenesis Imperfecta
- Hematologic disorders: e.g., Sickle cell anemia, thalassemia
- Other: e.g., Neurofibromatosis, Cystic fibrosis, Autism
Diagnosis of genetic disorders includes a detailed physical and neurologic examination, review of previous medical history and development, family history, and appropriate diagnostic tests.
Prenatal Genetic Counseling
Approximately 2-3% of newborns have some form of major birth defect of a genetic syndrome associated with serious handicaps or medical problems. While the birth of such babies is often unpredictable, it is more likely to occur in the presence of maternal risk factors such as:
- Advanced maternal age - Women over 35 have an increased risk of having a child with Down Syndrome or other chromosome abnormalities. Age does not increase the risk of most other birth defects and hereditary genetic disorders.
- Abnormal prenatal genetic screening test - Prenatal screening tests are offered to women of all ages primarily for the purpose of identification of pregnancies at risk for Down Syndrome and spina bifida. Both first and second trimester screenings are available.
- Abnormal prenatal fetal ultrasound findings - Fetal ultrasonography is frequently performed in the course of prenatal care. .
- Family history of birth defects/genetic disorders - A history of a previous child or close relative with a known or suspected genetic disorder may or may not increase the risk of that disorder for an expectant mother, depending on the type of condition the relative is affected with.
- Maternal history of recurrent pregnancy loss - Recurrent pregnancy loss in the form of miscarriage or stillbirth has numerous causes, some of which are genetic.
Genetic Cancer Risk Assessment
Genetics plays an important role in the development of cancer. While most cancer forms arise sporadically, there exist familial predispositions to cancer, which are hereditary traits that are passed from parent to child. The following are some characteristics of hereditary cancers:
- Type of cancer - Cancers of the breast, ovaries, colon, melanoma, and retinoblastoma are known to have a strong hereditary component in many patients.
- Family history - Several individuals in a family affected with the same form of cancer is a strong indicator that this cancer is of a hereditary form.
- Age at diagnosis - Hereditary cancers tend to appear at an earlier age compared to non-hereditary cancers of the same form. An examples of this are breast and colon cancer where diagnosis age is below 50. significantly increases the likelihood for the cancer to be hereditary.
- Focality - A common feature of hereditary cancers is that the cancer can appear at multiple anatomic sites. For example, breast cancer that is bilateral, or also associated with ovarian cancer is likely to be hereditary.
Genetic testing is now available for identification of patients who have or are at risk for hereditary forms of breast, ovarian, colon, and other cancers.
The Sections of Cytogenetics and Molecular Genetics are accredited by Clinical Laboratory Improvement Amendments (CLIA) and the College of American Pathologists (CAP).
Thanks to advances in genetic science, analysis of DNA has led to the development of numerous new diagnostic applications being used today.
Our laboratory currently performs genetic testing for the following applications:
- Diagnosis of genetic syndromes associated with birth defects and mental retardation
- Diagnosis of genetic conditions which produce infertility
- Diagnostic evaluation of recurrent pregnancy loss
- Diagnosis of chromosome rearrangements associated with leukemias and other hematologic disorders
Fluorescence in Situ Hybridization (FISH) Analysis
Detection of cancer associated genetic mutations is important for clinical classification, treatment selection, and prognosis assessment. Our laboratory performs FISH on bone marrow samples for detecting mutations associated with specific chromosome rearrangements that cause leukemias and other hematologic disorders. FISH is used alone or in combination with standard bone marrow chromosome analysis, providing several important diagnostic capabilities:
- Identification of chromosome rearrangements which are below microscopic resolution and not detectable with standard cytogenetic analysis
- Detection of chromosome rearrangements in non-mitotic (interphase) cells
- Capability of rapidly scoring large numbers of cells, thereby permitting identification of abnormal cell clones which may be present in low percentage
The availability of numerous antiretroviral (ARV) medications has significantly increased the life expectancy of patients affected with HIV.
However, successful treatment can be limited due to the unique ability of the HIV virus to acquire resistance to ARV medications by mutation in its DNA structure.
HIV genotyping is used to detect mutations in the DNA of the HIV virus which confer resistance to antiretroviral medications. This information is used for selection of the medication best suited for the patient.
Hepatitis C Virus (HCV) Genotyping
Hepatitis C is the most common cause of non A non B hepatitis. Current treatments consist of ribavirin and pegylated interferon. However, a patient’s response to treatment is dependent on numerous factors, which include age, sex, viral load, and the HCV genotype. HCV genotype information is important for selection of medications, dosage, and treatment duration.
Cystic Fibrosis Testing
Cystic Fibrosis (CF) is a relatively common genetic disorder, affecting about 1/3200 newborns in the Caucasian population and with lower frequencies in other populations. Currently, there is no cure for CF, and treatment is supportive.
The average life expectancy of a CF patient is about 40 years.
The American College of Obstetrics and Gynecology (ACOG) and the American College of Medical Genetics (ACMG) currently recommend prenatal carier testing of pregnant women for CF.