Is ColoNext 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 17 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.
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?
It’s usually a simple ‘spit test’ – all we need is your saliva. You’ll receive a kit with clear instructions on giving your sample.
- 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 four to five weeks 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.
- Clinicians►Close tab
Is ColoNext the right test for your patient?
Patients with a suspicious personal or family history of colorectal cancer or polyps benefit from early detection and cancer prevention. You can identify whether your patient has an increased risk by using ColoNext, our a 17-gene panel designed to provide more precise data to help guide personalised medical management recommendations such as earlier or more frequent colonoscopies.
When to consider testing
- Early-onset colorectal cancer (diagnosed <50 years of age)
- Multiple primary cancers in one person (e.g. two primary colorectal cancers or colorectal and uterine cancer)
- 3 or more family members with colorectal, uterine, ovarian, and/or stomach cancer*
- Multiple close family members, on the same side of the family, with colorectal and other cancers
- 10 or more GI polyps during one’s lifetime (adenomatous, hyperplastic, hamartomatous, and/or other types of polyps)
- Previous genetic testing for hereditary colorectal cancer was uninformative (negative or VUS)
Excludes MUTYH carriers, APC p.|1307K, and CHEK2 p.|157T
- Test Description
ColoNext analyzes 17 genes (listed above). 15 genes (excluding EPCAM and GREM1) are evaluated by next generation sequencing (NGS) or Sanger sequencing of all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions.
In addition, sequencing of the promoter region is performed for the following genes: PTEN (c.-1300 to c.-745), MLH1 (c.-337 to c.-194), and MSH2 (c.-318 to c.-65). For POLD1 and POLE, missense variants located outside of the exonuclease domains (codons 311-541 and 269-485, respectively) are not routinely reported. The inversion of coding exons 1-7 of the MSH2 gene is detected by NGS and confirmed by PCR and agarose gel electrophoresis.
Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection.
Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.1 Gross deletion/duplication analysis is performed for the covered exons and untranslated regions of all 17 genes using read-depth from NGS data with confirmatory multiplex ligation-dependent probe amplification (MLPA) and/or targeted chromosomal microarray. For GREM1, only the status of the 40kb 5’ UTR gross duplication is analyzed and reported.
For APC, all promoter 1B gross deletions as well as single nucleotide substitutions within the promoter 1B YY1 binding motif are analyzed and reported. If a deletion is detected in exons 13, 14, or 15 of PMS2, double stranded sequencing of the appropriate exon(s) of the pseudogene, PMS2CL, will be performed to determine if the deletion is located in the PMS2 gene or pseudogene.
1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.
This test is provided by:
Frequently asked questions
- Do I need a doctor to authorise this test?
- Yes, your doctor will need to provide the sample required for this test
- Will my health insurance cover the cost of this test?
- Many health insurance plans cover the cost of genetic testing – check with your provider to find out if it is in your policy.
- How soon do I get my results?
- Usually within four to five weeks of receipt of your sample in the laboratory.
- How accurate is the test?
- Ambry follows advanced laboratory procedures and ensures quality control to deliver accurate results you can trust.