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The key sections to take note of are:
Test scope / Panel: This shows you what genes are targeted for the test. For Marfan, usually it will be Panel = Connective Tissue
Gene: Fibrilin-1 or FBN-1 is the one associated to Marfan Syndrome
Variant: This describes any changes contrary to the expected on the gene
Classification: Do the changes have any impact i.e. the conclusion
Conclusion from test results can be confusing, as you may get:
Pathogenic (disease-causing) , Likely Pathogenic
Benign (harmless), Likely Benign,
Variant of Uncertain Significance (VUS)
Negative
The main point to note from the report is if they detected any abnormality on the FBN1 (fibrilin-1) gene.
This would be described in the report e.g.
This report can be read as A, B, C:
For this patient,
at the FBN1 gene,
at this position 1633,
it was expected to be “C “ but detected a change to “T”
Different patients may have different number shown for section B and/or section C. Any abnormality for FBN1 should be discussed with your geneticist.
Researchers have identified more than 1,300 FBN1 gene mutations that cause Marfan syndrome, so take note that test report details for variant can be different for each patient.
Is Genetic testing useful then? When patient Ghent score is not obviously above the required threshold, genetic testing may be a supplement to the doctor to conclude Marfan diagnosis.
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