Re-analysis of the results in previously issued reports considering new evidence is not routinely performed but is available upon request. Because the literature, medical and scientific knowledge are constantly changing, new information that becomes available in the future may replace or add to the information that Igenomix used to interpret the results. Result interpretation is based on currently available information in the medical literature, research, and scientific databases.Detailed medical records or information from other family members also may be needed to help clarify the result. Sometimes, performing ancillary tests is necessary to prove the phenotype that the proband presents with. Further analysis may be recommended, including testing both parents as well as other affected and unaffected family members. The presence of a VUS does not clarify whether the patient has an increased risk to develop the genetic disease or if it could be a normal genetic variant. A “variant of uncertain significance” (VUS) is a genetic change whose clinical impact on the patient is not yet known.

Inconclusive / Variant of Uncertain Significance (VUS).A negative result may be explained by several causes, including limited genetic knowledge and limitations associated to the used methodology. For this reason, this result does not eliminate the risk for future offspring. This result does not confirm nor rule out the clinical indication of the test and does not guarantee that the individual will be healthy or free from other genetic disorders or medical conditions. The absence of pathogenic or probably pathogenic variants associated with the clinical phenotype under study indicates that the molecular cause of the disease or condition has not been identified.NO Pathogenic or likely pathogenic variant has been identified.This scenario will allow to provide genetic counselling or personal guidance regarding possible medical treatments, disease progression, reproductive-/prevention-strategies and potential implications for other family members.The identification of a pathogenic or probably pathogenic variant associated with the clinical phenotype under study indicates that the result is compatible with the diagnosis of that disease or clinical condition.Pathogenic or likely pathogenic variant has been identified.Test results are interpreted based on the recommendations and guidelines of the American College of Medical Genetics and Genomics (ACMG) and the European Society of Human Genetics (ESHG) as described below.ĭifferent type of results can be obtained:

Next gene sequencing