Shodair’s nationally recognized medical genetics department provides genetic evaluation and counseling to citizens throughout all of Montana. The Medical Genetics Program offers comprehensive services to individuals with genetic conditions or concerns about their risk to transmit or develop a genetic disorder. The program is sponsored in part through funding from the Montana Department of Public Health and Human Services.

The Genetics Laboratory offers specialized testing as a part of the comprehensive medical genetics program based at Shodair Children’s Hospital. The Genetics Laboratory provides a wide variety of patient focused esoteric studies with an emphasis on quality, turnaround time, and personal responsiveness to providers. In addition to our dedicated laboratory staff, Shodair’s medical geneticists and genetic counselors are available to help clinicians and families understand test results.

The Genetics Laboratory provides services to patients of all ages throughout Montana and the western United States.

Services provided in the Genetics Laboratory include: Maternal Serum Screening, Cytogenetics, Fluorescence In Situ Hybridization (FISH), Molecular Diagnostics, Warfarin Sensitivity and other Drug Metabolizing Enzyme (Pharmacogenetic) testing.

Cytogenetic Testing

Lymphocyte and Other Tissue Test Request Form for Chromosome Analysis
Oncology Test Request Form
Prenatal and Fetal Loss Test Request Form

Cytogenetic analysis will detect a variety of chromosome-based disorders and can be conducted on specimens with viable cells. Chromosome studies are conducted for prenatal diagnosis, postnatal diagnosis, and oncology. Source cells for cytogenetic studies include amniotic fluid, placental or fetal tissue, blood, and bone marrow.

Fluorescence In Situ Hybridization (FISH) studies can be performed on all the above specimen types as well as fixed tissue sections. This molecular cytogenetic technique involves the use of fluorescently labeled DNA probes specific to a region of a chromosome.

Maternal Serum Screening

Second Trimester Maternal Serum Screening
Serum Integrated Screen

These biochemical screening tests incorporate clinical information to calculate a pregnancy-specific risk for open neural tube defect and trisomy 21 (Down syndrome). An estimated 85% of open neural tube defects and about 75%-80% of trisomy 21 can be detected by these tests. The American College of Obstetrics and Gynecologists recommends that all pregnant women be offered this test.

Molecular Genetics (DNA) Testing

DNA Test Request Form
Huntington Disease Clinician Waiver Form

Molecular Diagnostics uses multiple methods to detect specific mutations in a patient ’s DNA which are diagnostic for various disorders. Molecular analysis through DNA testing of blood or tissue samples is disease specific and highly accurate. Tests available in the laboratory can diagnose disease in patients of all ages.

Drug Metabolizing Enzymes (Pharmacogenetic) Testing

Drug Metabolism (Cytochrome P450) Test Request Form
Pharmacogenetic Consult Form
Warfarin Dosing Test Request Form

In August 2007, the Food and Drug Administration changed the Coumadin (Warfarin) label to include specific genetic testing to help identify patients at greater risk for adverse events when starting warfarin therapy. Warfarin sensitivity testing provides rapid turnaround time of results that can assist physicians with dosing decisions. Testing is also available for genetic changes in other enzymes responsible for metabolizing many other commonly prescribed medications used in psychiatry, oncology, pain management, and many other fields of medicine.