Is the Invitae Colorectal cancer panel the right test for you?
If several members of your family have had colorectal and other cancers – or maybe you have had a diagnosis yourself, even if it was only for polyps, this test is all about early detection and cancer prevention.
It involves analysis of a 29 gene panel designed to provide more precise data to guide you about additional screening or treatments such as earlier or more frequent colonoscopies.
It may provide more definitive answers if you’ve had previous genetic testing for hereditary colorectal cancer which was negative or inconclusive. Some genes analysed in this test are also associated with an increased risk for other cancers, including ovarian, endometrial and thyroid.
To get this test, you will first need a consultation with your clinician, who can explain about this and our other tests which look at aspects of colorectal cancer to find out which one is right for you, then you can either:
- Buy it directly from this website (this cost may be covered by your medical insurance).
- Access it through your treating hospital/private healthcare provider.
This test is only available to those aged 18 years or above.
- Why?►Close tab
Would more frequent screening or preventative surgery help you?
This test can help your clinician decide at what age and how often you should have a colonoscopy and other screening.
It will help you both decide if you should consider preventative surgery such prophylactic colectomy (removing all or part of the colon before a cancer occurs) or other risk-reducing measures.
Identifying which specific chemotherapies may help is another benefit of the test which can also help determine your eligibility for any relevant clinical trials.
This test can also indicate if other member of your family may have hereditary risk of developing colorectal or other cancers – and therefore what steps they need to take for further screening or monitoring.
You can discuss this with your clinician, or if you would like to talk to one of our experts about the test, call us on +44 (0) 7495 981816
- How?►Close tab
What do I need to do?
This test is an analysis of your blood, so your Clinician will need to take a blood sample from you.
- Process►Close tab
Buying the test
Step 1: There are two options:
- Via your treating hospital/private healthcare provider (we have special arrangements with many healthcare providers to enable you to access this test, click here to see the list)
- By clicking the ‘Buy direct now’ button above (the cost may be covered by your medical insurance – check your policy details)
Step 2: Collection of sample
We will liaise directly with your clinician and organise the collection of your sample and delivery to the laboratory.
Step 3: Analysis and reporting
Your sample will be analysed and a report will be generated, usually within 10–21 calendar days (14 days on average) of receipt of your sample in the laboratory.
Step 4: Results
Your clinician will receive the test report giving a clear indication of whether you are at risk of colorectal cancer or if you have already been diagnosed, what steps you – and possibly other members of your family – need to take next.
- Results►Close tab
Your clinician will be able to discuss your results and their implications for you, but as a guide:
A positive result does NOT mean you have cancer, or that you will definitely develop it.
It does means that a mutation, or genetic change, has been identified in a specific gene that increases the chance of your developing certain cancers in your lifetime – and your personal results will provide more detailed information specific to you. Talk to your clinician about creating a screening and management plan for you, and to identify relatives who may also need to be tested.
A negative result means that no mutations or genetic changes associated with an increased risk of the most common hereditary cancers were identified in the genes that were analysed. The result does not eliminate your risk of developing cancer completely as there are other factors, such as lifestyle, or perhaps mutations not detected by current technology or mutations in other genes. Again, talk to your clinician about what the results mean for you.
Variant of uncertain significance
This is where a gene mutation has been found, but at present we do not know if this affects your risk of certain cancers. In this case, your clinician will be able to talk about screening recommendations based on your personal and family medical histories and if new information becomes available, Invitae will update your clinician.
- Clinicians►Close tab
Is the Colorectal Cancer Panel test right for your patient?
This panel may be appropriate for individuals with a personal history of colon cancer and/or a family history of suggestive of a hereditary colon cancer syndrome, including:
- an early-onset colon cancer diagnosis at ≤50 years of age
- multiple primary cancers, including colon cancer
- colon cancer and a family history of other gastrointestinal or gynecologic malignancies
- presence of an abnormally high number (10+) of precancerous colorectal polyps (adenomas)
- multiple hamartomatous colorectal polyps
- a clinical or family history that meets the criteria for evaluating specific hereditary colon cancer syndromes
There are also some common general features suggestive of a family with hereditary cancer syndrome. These include:
- cancer diagnosed at an unusually young age
- different types of cancer that have occurred independently in the same person
- cancer that has developed in both organs of a set of paired organs (e.g., both kidneys, both breasts)
- several close blood relatives that have the same type of cancer
- unusual cases of a specific cancer type (e.g., male breast cancer)
This test analyses up to 17 genes associated with a hereditary predisposition to prostate cancer. These genes were selected based on available evidence to provide Invitae’s most comprehensive test targeting hereditary prostate cancer.
Genetic testing may confirm a clinical diagnosis and guide treatment and management decisions. At-risk relatives may also be identified, allowing pursuit of a diagnostic evaluation, early detection and improved clinical outcome. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumour tissue.
The primary, 20 gene panel is made up of:
APC AXIN2 BMPR1A CDH1 CHEK2 EPCAM GREM1 MLH1 MSH2 MSH3 MSH6 MUTYH NTHL1 PMS2 POLD1 POLE PTEN SMAD4 STK11 TP53
With an Add-on of 9 preliminary evidence genes for Colorectal cancer
ATM BLM BUB1B CEP57 ENG FLCN GALNT12 MLH3 RPS20
- Validation►Close tab
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