When to Consider Family Testing?
You should consider family testing if a genetic variation known or believed to be associated with an inherited disease has been detected in you or your patient’s family.
Since genes are shared among blood relatives, a disease-causing genetic variation detected in one family member (the "familial mutation") is likely to be present in other family members as well. Genetic family testing can show who in a family harbors the familial mutation and is at high risk of the disease and who does not harbor the familial mutation and is not at increased risk of the disease. Family members who harbor the familial mutation will then know that they have to be vigilant for symptoms of the disease and seek medical attention early, while family members who do not harbor the familial mutation no longer need to worry about an increased risk of developing the disease or about passing on such as risk to their children.
We would like to emphasize that deciding to share genetic testing results is a very personal matter and should be considered carefully, since it can lead to tensions within a family. At the same time, family testing can ensure a better health outcome for family members and their children.
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How to Initiate Genetic Family Testing?
Consulting a genetic counselor
We encourage you to seek the advice of a genetic counselor, a medical health professional specializing in counseling individuals on the risk of genetic disease in their family and the pros and cons of genetic testing. To find a genetic counselor in your area, please visit http://www.nsgc.org/resourcelink.cfm, e-mail us at info@correlagen.com, or call us at 1-866-647-0735. Please make sure to let your genetic counselor know that Correlagen offers consultation to genetic counselors on the genetics of specific diseases and on interpretation of genetic testing results.
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Getting Informed
Start by reading and giving to family members information about the familial disease and about genetic testing. We provide a lot of informational material on these subjects on our website, and we also link to other websites with related information. We recommend in particular that you get in touch with patient advocacy groups for the disease you are concerned about. For help with finding a patient-advocacy group, please visit the Related links page on our website, e-mail us at info@correlagen.com, or call us at 1-866-647-0735.
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Consulting the family physician or specialist
Most genetic testing can currently only be ordered through a physician. Therefore, each family member should go to his or her physician to discuss and request genetic testing. Since genetic testing is a relatively new diagnostic tool, we also recommend printing out some of the informational material provided on this website and bringing it along to the doctor’s appointment.
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Knowing the familial mutation
Importantly, each family member should make sure to know the identity of the familial mutation. A familial mutation is identified by its location within a gene, the nature of the genetic variation, and the affected gene (eg, c.772G>A, MYBPC3).
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Ordering a Family Test
at Correlagen
Correlagen Diagnostics can perform a targeted sequencing analysis of the gene of interest to assess the presence of familial variant(s).
Our Clinical Laboratory Improvements Amendment (CLIA) regulations
require consent signatures for all pre-symptomatic testing. Family testing
falls into the pre-symptomatic testing category. In addition, to ensure accurate
quality testing of other family members, the laboratory must also know the
disease causing variant found in the index family member. To achieve this
accuracy, we require a copy of the affected family member’s gene testing report.
We appreciate it if you would please provide the following
information for family tests:
Please note that different laboratories may follow different
conventions when naming variants. Therefore, in case the familial variant(s)
was previously identified by an outside laboratory, it would be advisable
to submit a sample from a family member carrying the variant(s) for quality
control reasons. Alternatively, an outside laboratory could provide the sequence
of a fragment containing the familial variant with its flanking nucleotides.
In the case where Correlagen Diagnostics did not test the
index patient, nor received a sample from a family member carrying the mutation
that could serve as a positive control, the testing strategy and the interpretation
of the reported results will be based exclusively on the information provided
to us.
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Correlagen Can Help
Please contact us with any questions or if you would like us to speak directly to a physician or genetic counselor. You can reach us by e-mail at info@correlagen.com or by phone at 1-866-647-0735.
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