Invitae Colorectal Cancer Panel

Primary panel

• APC
• AXIN2
• BMPR1A
• CDH1
• CHEK2
• EPCAM
• GREM1
• MLH1
• MSH2
• MSH3
• MSH6
• MUTYH
• NTHL1
• PMS2
• POLD1
• POLE
• PTEN
• SMAD4
• STK11
• TP53

With the option of testing for a further 10 genes associated with colorectal cancer: ATM, BLM, BUB1B, CEP57, ENG, FLCN, GALNT12, MLH3, RPS20, RNF43.

A personalised results report will be sent to the patient and made available to their clinician (upon the patient’s consent).

There are three possible result outcomes from this test:

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

Positive: In cases where a patient has already been diagnosed with colorectal 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 colorectal cancer as a second primary.

If taking the test to understand an individual’s risk of developing colorectal 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 colorectal cancer.

Negative: If the patient has already been diagnosed with colorectal 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 colorectal 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 colorectal 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 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 results report. This should be obtained directly from the clinician.

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

Turnaround time: 2-3 weeks 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: gDNA also accepted.

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 a mandatory requirement for all patients 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 they should 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 >>

Colorectal cancer, also known as CRC, is a malignancy of the large intestine. There are two types of hereditary colon cancer syndromes: lynch syndrome and polyposis syndromes. Lynch syndrome, called HNPCC for short, is caused by pathogenic variants in MLH1, MSH2, MSH6-, PMS2- and EPCAM genes. This condition is the most common inherited cause of colorectal cancer. Polyposis syndromes form numerous precancerous polyps which may turn malignant over time.

Up to 5% of heritable cases are due to Lynch syndrome, less than 1% are due to familial adenomatous polyposis (FAP) and less than 0.1% are due to hamartomatous polyposis syndromes, including juvenile polyposis syndrome (JPS), MUTYH-associated polyposis (MAP) and Peutz-Jeghers syndrome (PJS).

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 analysis of clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons, depending on the specific gene or test. It also includes the analysis of select non-coding variants.

Sensitivity

This assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae’s methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons.

Validations and papers

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