HerediGENE is designed for individuals or families, meeting one or more of the following criteria:
An individualized report that summarizes the findings of your genetic profile is provided to you and your physician.
GeneKor takes care of all the logistics in order for your sample to arrive to our laboratory safely
Detailed recording of your family medical history and genetic counseling before, during and after the test.
Yes BRCA1/2 are included in addition to 50 more genes shown in the table.
The main types of cancer covered by HerediGENE include but are not limited to Breast, Ovarian, Prostate, Colorectal, Endometrium, Melanoma, Pancreatic, Gastric, Endocrine, Kidney
The results obtained by the test are useful for the entire family. When a pathogenic mutation is identified in the majority of cases it is inherited from one of our parents. Siblings and children also have 50% chance of having inherited the same pathogenic mutation. More distant relatives, such as cousins, aunts, uncles and grandparents, are also at risk of carrying the pathogenic mutation identified in your sample even if they have not yet been diagnosed with cancer or if they have a different type of cancer than the one diagnosed in you. Knowledge about this predisposition can help guide their surveillance plan, leading to earlier detection of cancer at a stage when it is more easily managed.
Note that hereditary cancer predisposition syndromes can be associated with many different types of cancer. This means, that even if the mutation detected in your sample is mostly associated with breast or ovarian cancer it can also increase the risk of prostate or pancreatic cancer, for example. This in turn means that the knowledge about carrying a pathogenic mutation is equally important for both male and female relatives. Please ask your physician to help you identify which relatives should be tested for the mutation identified.
Despite the fact that BRCA1 and BRCA2 are the two most significant genes in hereditary breast and ovarian cancer predisposition, twenty years of analysis has highlighted the fact that mutations in these two highly penetrant genes are only present in approximately 20% of high risk families. Recent studies have shown that analysis of a panel of genes related to hereditary cancer predisposition increases the chance of identifying a pathogenic mutation by as much as 14%.
If a mutation is not identified when only BRCA1/2 are analyzed then your physician may ask you to have additional genes analyzed in order to identify the underlying genetic cause of your condition. If this is done sequentially it increases the time and cost of the analysis.
Hereditary cancer predisposition genes can be categorized according to the relative risk for cancer that they confer to pathogenic mutation carriers. In this aspect, three categories can be identified. Genes in which mutation confers a relative cancer risk of 5 or higher are known as “high penetrance genes”. A relative risk of 1.5 or lower is associated with “low penetrance genes”. Genes that confer the intermediate range of 1.5-5 are known as “intermediate penetrance”. Therefore, absence of a family history may mean that the mutation in your family is found in an intermediate or low penetrance gene.
Variability in clinical presentation of the syndrome, as well as other environmental and life-style differences between individuals in the same family can make it difficult to identify at risk individuals and the classic criteria originally used to define many of the hereditary cancer syndromes have limited sensitivity and specificity for detecting germline mutation carriers.
Factors that may limit the informativeness of the family are:
The results of the HerediGENE Assay will be available in 20 working days.
Whole peripheral blood in EDTA vials (2 vials). Genekor DOES NOT perform blood sample collections so you need to contact your doctor or any other laboratory which performs this kind of collections so you can get the sample.
For information on the cost coverage of the test you should contact your personal insurance.
Genekor Medical S.A. is certified with ELOT EN ISO9001:2008 and ELOT EN ISO15189:2012, which require the written consent of each patient for the use of his/her genetic material for testing.
The sample should be held in room temperature (25°C). During the summer period we recommend to have an ice pack in the Kit (The ice pack SHOULD NOT directly touch the samples).
|Breast, Colon, Prostate, Pancreas, Ovarian, Gastric,|
|Melanoma, Endocrine, Kidney, Endometrial.|
|Hereditary Breast and Ovarian Cancer Syndrome, Lynch Syndrome,|
|Familial Adenomatous Polyposis, Cowden Syndrome, Li-Fraumeni Syndrome, Peutz-Jeghers Syndrome,|
|Von-Hippel Lindau Syndrome, Multiple Endocrine Neoplasia, Other.|
A negative report indicates that no clinically significant mutation has been identified.
A positive report indicates that a pathogenic mutation was identified. In this report you will find details about the variants detected and extensive interpretation of the risk of the individual, along with analysis of the findings.
A VUS (Variant of Uncertain Clinical Significance) report indicates that the available data (published and in silico analyses) are not enough to characterize the variants identified in this individual, as pathogenic or benign. In these cases, clinical management should be based on personal and family history. VUS results should not be used in predictive testing of at risk relatives.
Ask your physician if you are eligible for the HerediGENE test.
A blood sample is required for this test (2 EDTA vials). Your sample will be collected per your physican's instructions.
Ask your physician if you are eligible for the COMPLIT test.
Your report will be electronically released to your physician via email and/or uploaded to our secure portal, and to you via mail.