HerediGENE

Genekor is specialized in molecular genetic diagnosis of hereditary cancer syndromes for Breast, Ovarian, Colon, Thyroid and other cancer syndromes

HerediGENE

HerediGENE is a test that fully analyzes a panel of 52 genes, including BRCA1 and BRCA2, which are associated with increased risk of developing breast, ovarian and other hereditary cancers.

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Who should be tested?

HerediGENE is designed for individuals or families, meeting one or more of the following criteria:

Early age of onset of any type of cancer.
Individuals with multiple primary tumors.
Bilateral breast and/or ovarian cancers.
Same type of cancer occurring in close relatives.
Cancer incidence in multiple generations of a family.
Rare tumor occurrence at any age.

Clinical Utility

HerediGENE provides valuable information that can be utilized for reducing the risk of cancer development by assisting the treating physicians to individualize surgical and pharmaceutical management. In addition, it can be used to identify those family members at risk of developing cancer who can benefit from risk reduction management. Furthermore, those family members that do not carry the pathogenic mutation identified in the family can be relieved of the stress of developing hereditary cancer and forego unnecessary interventions.

For more scientific and technical information you can contact us: scientific.support@genekor.com

What you get

Report

An individualized report that summarizes the findings of your genetic profile is provided to you and your physician.

Support

GeneKor takes care of all the logistics in order for your sample to arrive to our laboratory safely

Free Genetic Counseling

Detailed recording of your family medical history and genetic counseling before, during and after the test.

FAQS

Are BRCA1/2 genes included?
Yes BRCA1/2 are included in addition to 50 more genes shown in the table.
What types of cancer does it cover?
The main types of cancer covered by HerediGENE include but are not limited to Breast, Ovarian, Prostate, Colorectal, Endometrium, Melanoma, Pancreatic, Gastric, Endocrine, Kidney
If a pathogenic mutation is found, should family members be tested?
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.
Why should I choose HerediGENE instead of BRCA1/2?
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.
If I don’t have family history, should I still choose HerediGENE?
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:
- incomplete family history assessment
- unavailable medical records
- small family size
- small number of individuals of the susceptible gender in sex-limited cancers
- early death of key individuals in the family, from causes other than cancer, before the average age of onset of the phenotype,
- prophylactic surgeries that remove the organ at risk
- false paternity or adoption
- inaccurate or incomplete information on family members
- failure to investigate all types of cancer in the family
In how many days will the results be available?
The results of the HerediGENE Assay will be available in 20 working days.

What type of specimen is required and where is the sample collection made?
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.
Does the test have any cost coverage from any public/private insurances?
For information on the cost coverage of the test you should contact your personal insurance.
How can I send my sample and receive my results?
Genekor is responsible for all the necessary procedures of the pick-up of the patient’s specimen. To arrange your sample pick-up, contact us or complete the Test Order Form.

Your results will be shared with the ordering physician via e-mail.
Why should I sign the consent form?
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.
Are there any special transportation conditions?
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).

HerediGENE analyzes these genes:

These genes are associated with several different cancer types but are related to several different hereditary cancer syndromes:

Cancer Types
Breast, Colon, Prostate, Pancreas, Ovarian, Gastric,
Melanoma, Endocrine, Kidney, Endometrial.

Cancer Syndromes
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.

Result Information

Possible Outcomes

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.

How to get Started

Order the test

Ask your physician if you are eligible for the HerediGENE test.

Sample requirement

A blood sample is required for this test (2 EDTA vials). Your sample will be collected per your physican's instructions.

Analysis Process

Ask your physician if you are eligible for the COMPLIT test.

Reporting

Your report will be electronically released to your physician via email and/or uploaded to our secure portal, and to you via mail.

Technical Info

HerediGENE is designed in order to achieve maximum sensitivity and specificity. All findings are classified using the most reliable, updated databases and in silico analysis algorithms. Advanced Next Generation Sequencing Technology, also known as NGS, is used to fully analyze a panel of genes that is associated with hereditary cancer predisposition syndromes. Analysis of Large Genomic Rearrangements is also included in HerediGENE, providing comprehensive and reliable information to patients and physicians.

For more scientific and technical information you can contact us: scientific.support@genekor.com