Variantyx Testing

Supplementary Information

Please read the following information carefully and discuss with your healthcare provider or a genetic counselor before signing the informed consent.

General Information About Genetic Testing

Genetic testing analyzes your DNA to identify changes (variants) that may be associated with disease or medical conditions. Results may provide information about a current condition, a predisposition to develop a condition, or may indicate no significant findings. It is recommended to consult a genetic counselor or your physician before and after testing.

Possible Test Results

Positive result – A positive result indicates that one or more genetic variants were identified that either explain or partially explain the cause of the disorder or indicate an increased risk of developing the disorder in the future. Individuals with positive results may wish to consider further independent testing and/or consultation with their physician or genetic counselor.

Negative result – A negative result indicates that no genetic variant explaining the disorder was identified by this test. This reduces the likelihood of, but does not exclude the possibility of, the disorder being genetic in nature.

Uncertain result – A variant of uncertain significance was identified by this test. This means that a genetic variant was identified, but based on available information in the medical literature and research and scientific databases it is not certain whether the variant may cause the disorder. The variant could be a normal genetic difference that does not cause the disorder. Without further information, the effects of the variant cannot be known and an “uncertain/clinically inconclusive” result may be reported. The uncertainty may be resolved over time if additional information becomes available. Periodic reanalysis of the sequence data or further analysis, including testing of additional family members, may be recommended.

Indeterminate result – An indeterminate result indicates that there were relevant genetic variant(s) identified in the analysis, but that it is uncertain whether they are true variants or artifacts. Furthermore, it is considered that a repeat test will not resolve the technical uncertainty and orthogonal confirmation is necessary to resolve the result.

Inconclusive result – A technically inconclusive result indicates that there was an issue with the patient sample that resulted in data that the lab cannot interpret. It is considered that a repeat test will likely resolve the technical uncertainty and therefore a repeat sample is recommended to complete the analysis.

Report summary – this is when the assay does not include phenotype correlation and list only findings without interpretation.

Test-Specific Information

Please follow the link for specific information about the relevant test:

Important Notes

  • You may choose whether or not to proceed with genetic testing after reviewing this information.
  • Genetic counseling is recommended to help you understand potential results and their implications for your health and family.
  • You may also wish to consult your physician regarding further independent testing.
  • Results may have implications for family members, and sharing results with relatives may be important.
  • Variant interpretation is based on current scientific knowledge, which may change over time.