Invitae BRCA1 and BRCA2 STAT panel

• BRCA1
• BRCA2

A personalised results report will be sent to the customer and made available to their clinician* (upon the customers consent)**.

There are three possible result outcomes from this test:

• A positive result – a pathogenic or likely pathogenic mutation has been detected
• A Variant of Unknown Significance (VUS)
• A negative result – no pathogenic mutation detected

Positive: In cases where a patient has already been diagnosed with breast or ovarian cancer, a positive result will mean that a pathogenic or likely pathogenic mutation (a fault in a gene) has been found. Therefore, they have an increased risk of developing breast or ovarian cancer as a second primary.

If taking the test to understand an individual’s risk of developing breast or ovarian cancer, a positive result will also mean that a fault in one or more of their genes has been found. Therefore, they have an increased risk of developing breast or ovarian cancer.

Negative: If the patient has already been diagnosed with breast cancer; a negative result will mean that the test has not identified a pathogenic mutation in the genes analysed (no fault in the genes). Therefore, they have no variants in the genes analysed that put them at high risk of developing cancer as a second primary.

However, if an individual is taking this test to understand their risk of developing breast or ovarian cancer, a negative test result will mean that the test has not identified any faults in the known genes. Therefore, they have no variants in the genes analysed that put them at risk of developing breast or ovarian cancer.

Variant of Unknown Significance: The test result could show a Variant of Unknown Significance (VUS). This means that the test has identified a change in the sequence of the individual’s genes, but it is not yet known if that indicates a clinically significant breast or ovarian cancer risk. However, it is unusual to receive a VUS result on any of these genes.

No personal medical guidance is provided with the test result. This should be obtained directly from the clinician.

*Results reports are only sent to the customers clinician when a test is organised through a GP/clinic/hospital.
**No results information is shared with an employer or insurance provider.

Who can order this test from Everything Genetic? Healthcare providers and individuals.

Turnaround time: 10 – 14 days from receipt of sample in US laboratory.

Preferred specimen: Saliva and blood both accepted in either purple top EDTA blood collection tube or Oragene OG-510 saliva collection tube.

Alternative specimen collection: None.

Delivery information: Test kits will be sent out by using a Royal Mail Tracked service, unless otherwise arranged.

Pre and post-test clinical support is mandatory for those taking the test. This can either be provided by the clinician treating the patient or Everything Genetic’s Medical Director, Dr James Mackay.

This unique and personal clinical support service offered by Everything Genetic gives patients and their relatives the guidance and support they need so they understand their results and what to do next.

Everything Genetic’s pre-test clinical support is provided through a clinically guided informational video which explains:

• What the test is for
• Why patients should take the test
• What it does and doesn’t test for
• What the possible results are from taking the test

If the results show a negative or VUS result, the patient will receive a clinically guided information video explaining what the results mean and what they should do next. A results report will also be sent to the patient and/or clinician via email, with the option of speaking to our Medical Director, Dr James Mackay.

If the results show a positive result, a private consultation will be arranged with either our Medical Director or the clinician who referred them. Following the consultation, a results report will be sent via email.

For clinicians who provide their own pre and post-test clinical support, the results will be sent directly to them.

Read more about our Medical Director, Dr James Mackay >

Approximately 12% of women will develop breast cancer in their lifetime, and 1.3% will develop ovarian cancer. Only 5%-10% cases are hereditary and caused by an identifiable pathogenic variant in a disease-causing gene.

Those who have been identified as having a cancer-causing gene mutation that they have inherited from parents (known as a pathogenic variant) have a much higher risk of developing other cancers. Knowing if someone has one of these mutations is important so that extra screening and surveillance can be sought from an early age.

Assay information

This test is developed by Invitae, a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory. The test performs full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Sensitivity

Pathogenic variants in BRCA1 or BRCA2 account for the majority of hereditary breast and ovarian cancer cases in individuals with a strong family history or an early-onset diagnosis.

Validations and papers

View all validation documents and papers for this genetic test here >>