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Cytogenetics and FISH

Q: How will I get my lab results?
A: Lab results will only be sent to your referring physician and results can be obtained by calling your doctor. Results will not be discussed directly with the patient.

Q: Will blood collected in Lithium Heparin or EDTA be acceptable for chromosome and FISH analysis?
A: No, blood collected in Lithium Heparin or EDTA will not be accepted for chromosome or FISH analysis. Blood collected in Sodium Heparin is the only acceptable collection tube.

Maternal Serum Screening

Q: What are the appropriate times for Maternal Serum Screening testing?
A: For the Integrated Screen, the first sample is taken between 10-13 weeks and the second sample is taken during 15-22 weeks. For the second trimester triple screen and quad screen, the sample is drawn during 15-22 weeks. Result interpretation of samples drawn outside of these time ranges is not possible.

Q: What temperature are the specimens sent?
A: Specimens are sent at room temperature. Mailing containers are available through Shodair Hospital, 406-444-7532.

Q: What kind of specimen is collected and how much is needed?
A: The specimen needed is 2.0mL of serum.

Molecular Diagnostics

Q: What is the sensitivity of the Beckwith-Wiedemann Syndrome testing?
A: Approximately 60% of the patients with clinical BWS will have abnormal methylation at LIT1/KCNQ1OT1. Approximately 15% - 20% will be mosaic for UPD 11 p15.

Q: If I send cultured amniocytes or CVS cells for prenatal testing, how many flasks and what confluence would be required?
A: We would like three T-25 flasks that are greater than 90% confluent.

Q: For prenatal testing, what are the specimen requirements for the maternal blood sample?
A: We do not require maternal cell contamination studies with prenatal analysis. If you are requesting maternal cell contamination, please send 5-7mL whole blood in an EDTA (purple top) tube.

Pharmacogenetics (Warfarin Sensitivity and Drug Metabolizing Enzyme Testing)

Q: How do genes affect which medications I should take?
A: Some genes affect the way medications work in the body. Some people have small changes in their genes that can affect how they react to medicine. These small changes can:

• Make it harder for the body to use some medicines. This means normal doses could cause unexpected side affects for some people.
• Make the body use medicine too fast. This means normal doses don’t work as well and higher doses may be needed.
• Make the body not be able to use certain medicines. This means a different medicine might be needed.

Q: What kind of test is this, and how do I get tested?
A: The test is performed on a small blood sample. Your healthcare provider may order the test.

Q: What are possible benefits of this test?
A: The test has several possible benefits:

• The test may help identify medicines that work best for you.
• The test may lower the chance of side affects from medicine.
• This specific testing only needs to be done once in a lifetime, because your genes do not change.
• These test results may be helpful for medicines that you need in the future.

Clinical Genetics Services

Q: What is genetic counseling?
A: Genetic counseling provides individuals and families with information about actual or potential inherited defects and/or conditions in the individual, his or her children, or other relatives. Our staff is professionally trained to analyze the medical history of the family, perform a physical examination if needed, and provide interpretation of diagnostic test results. We explain details of the specific conditions and discuss the options available to the individual or family. Emotional support is provided on an ongoing basis.

Q: What happens during a genetic evaluation?
A: A genetic evaluation takes approximately one hour and includes a medical evaluation, genetic counseling, and a follow-up plan. We ask questions regarding medical and family history. A physical exam to help in the diagnosis, and blood or other sample laboratory testing may be needed A full explanation of the nature and cause of the disorder, its natural history, prognosis, mode of inheritance, and recurrence risk is given. Resources available to provide support, care, and assistance to families are also provided. The ultimate goal of the evaluation and counseling is that the individual or family understand the medical facts, the diagnosis, and the recurrence risk and options for dealing with them. We work to assist people in making the best possible adjustment to a situation. Periodic visits and phone contacts may be necessary in this ongoing process.

Q: What is a cancer risk assessment?
A: A cancer risk assessment can provide you with information about your individual risk for developing cancer, and may help you make decisions about additional tests, lifestyle changes, or other health care options. A cancer risk assessment includes:

• Obtaining complete family history and medical records.
• Assessing individual cancer risk.
• Discussion of additional options, including DNA testing, cancer surveillance, lifestyle changes and potential preventative therapies.
• Consideration of pros and cons of testing, including potential insurance and employment issues.
• Gene testing, if indicated and desired.
• Evaluation of test results and their implications, including impacts on other family members.
• Follow-up genetic counseling.
• Referral to other health care professionals as needed.