Genekor's BRCAtest Germline is designed to detect Hereditary Breast and Ovarian Cancer syndrome.

Germline


The BRCA Germline test is designed to detect Hereditary Breast and Ovarian Cancer Syndrome on a simple blood sample.

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Who Should Be Tested

BRCA1/2 testing is only recommended for certain population or individuals with a high risk of having a BRCA1/2 gene mutation, including those with:

  • if the mutation in the family is known you are not going to do this test
  • A personal history of breast cancer at age 45 or younger
  • A personal history of breast cancer at any age AND a family member (parent, sibling, child, grandparent, uncle, aunt, nephew, niece or first cousin) diagnosed with breast cancer at age 50 or younger
  • A personal history of breast cancer at any age AND two or more family members diagnosed with breast, pancreatic and/or prostate cancer at any age
  • Ashkenazi Jewish heritage and a personal history of breast or pancreatic cancer
  • A personal history of triple negative breast cancer (breast cancer that is estrogen receptor-negative, progesterone. receptor-negative and HER2-negative) diagnosed at age 60 or younger
  • A personal or family history of ovarian cancer
  • A personal or family history of male breast cancer
  • A family member (parent, sibling, child, grandparent, uncle, aunt, nephew or niece) diagnosed with breast cancer at age 45 or younger

Clinical Utility

The BRCAtest provides valuable information that can be utilized for reducing the risk of cancer development or recurrence 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.

Germline Table

FAQS

  • What types of cancer does it cover?

    This test covers mainly breast (male and female) and ovarian cancer. In addition, some mutations may increase the risk of pancreatic and prostate cancer, as well as melanoma.

  • If a pathogenic mutation is found, should my 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% risk of having inherited the same pathogenic mutation. More distant relatives, such as cousins, aunts and 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.

  • In how many days will my results be available?

    The results will be available in 15 working days.

  • What specimen type is required for the BRCAtest Germline?

    Whole peripheral blood in EDTA vials. (2 vials)

  • Is the test covered by any public/private insurance?

    For information about the cost coverage of the test you should contact your personal insurance.

Possible Outcomes

A negative report indicates that no clinically significant mutation has been identified. In this report you will find an interpretation of the findings along with details about non-clinically significant variants.

A positive report indicates that a pathogenic mutation was identified. In this report you will find details about the variant 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

1

Order the test

Ask your physician if you are eligible for the BRCA Germline test.

2

Sample requirement

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

3

Analysis Process

Your sample will arrive to to our accredited laboratory and your report will be generated and released to you and your physician in 15 days

4

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

BRCA Germline test 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 the BRCA1 and BRCA2 genes that are related to Hereditary Breast and Ovarian Cancer Syndromes (HBOCS). 

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How to order

Our dedicated Client Service Team is committed to answer your questions with regards to the services offered by Genekor. If you would like to order any of the tests that Genekor performs please contact us directly.

Please click here to see the specimen preparation and shipping instructions

If you would like to send us your sample,

contact us in order to arrange for all the logistics.

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