TEST CODE: 008850
DIAGNOSTIC TEST FOR: RARE DISEASES
TURNAROUND TIME: 10–21 calendar days (14 days on average)
PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube
ALTERNATE SPECIMENS: DNA or saliva/assisted saliva
Genetic testing for rare diseases
“Get answers, faster”
Diagnose your symptoms and find treatment options
Finding a diagnosis is an important step in managing and treating rare diseases. But for many people it can take years: the average time it takes a patient to get a rare disease diagnosis is 3.9 years.
Genetic testing can help you reach a diagnosis, faster.
The benefits of genetic testing include:
– confirming or explain a diagnosis
– understanding the cause of unexplained symptoms
– identifying treatment options, including clinical trials
Diagnose your symptoms and find treatment options
Finding a diagnosis is an important step in managing and treating rare diseases. But for many people it can take years: the average time it takes a patient to get a rare disease diagnosis is 3.9 years.
Genetic testing can help you reach a diagnosis, faster. The benefits of genetic testing include:
– confirming or explain a diagnosis
– understanding the cause of unexplained symptoms
– identifying treatment options, including clinical trials
What are the benefits of testing?
Genetic testing gives you information that may help you and your healthcare provider:
– establish or confirm your specific diagnosis
– provide an explanation of the underlying cause of your heart condition
– make informed medical decisions and provide an opportunity to start risk reduction strategies
– understand whether you are at risk of developing an underlying condition that affects more than one organ or system in your body (multisystem conditions)
– identify other at-risk relatives for whom genetic testing is recommended
Testing for at-risk family members
Identifying at-risk family members is one of the most important benefits of genetic testing. If you have a genetic variant, your immediate family members have up to a 50% chance of having the same variant. Other relatives may also be at risk.
What are the potential results?
A POSITIVE TEST RESULT CAN:
If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.
A NEGATIVE TEST RESULT:
If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.
AN UNCERTAIN VARIANT TEST RESULT:
In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.
Take action based on your results
With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:
– increased or earlier screenings
– lifestyle modifications
– early intervention to prevent the onset of disease
When you need more
Exome Sequencing can provide answers for complicated or difficult-to-diagnose cases.
Exome testing looks at the pieces of your DNA that provide instructions for making proteins (“exons”). Exome testing may be right for you (or your child) if:
– your healthcare provider suspects a genetic condition
– there are multiple genes that could be the cause of your (or your child’s) symptoms
– you (or your child) have a complicated medical history that affects many organs and/or body systems
– past genetic test results for any non-exome tests were normal
This test is ordered through your (or your child’s) healthcare provider. Results are typically available in 6 to 8 weeks after you provide a blood or saliva sample.