Is Lynch Syndrome Current the right test right for you?
Lynch syndrome is the most common cause of hereditary colorectal and uterine cancer. It can also indicate a higher risk of some other cancers including ovarian. This test is all about early detection and cancer prevention.
It involves analysis of five specific genes associated with Lynch Syndrome and is designed to provide more precise data to guide you about additional screening or treatments such as earlier or more frequent colonoscopies.
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 these particular cancers 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.
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 these cancers 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 Lynch Syndrome Current the right test for your patient?
Lynch syndrome, previously known as hereditary non-polyposis colorectal cancer (HNPCC), is caused by mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2, and EPCAM. Lynch syndrome is the most common hereditary form of colorectal cancer.
When to consider testing
- Colorectal or uterine cancer diagnosed <50 years old
- Uterine and/or ovarian cancer with a family history of gastrointestinal cancers, like colorectal cancer
- Multiple close family members with more than one Lynch syndrome cancer, such as colorectal and uterine cancer (on the same side of the family)
- Family members with Lynch syndrome
- Test Description
MLH1 coding exons 1-19, MSH2 coding exons 1-16, MSH6 coding exons 1-10, and PMS2 coding exons 1-15, and well into the 5’ and 3’ ends of all the introns and untranslated regions are analysed by sequencing. Gross deletion/duplication analysis determines gene copy number for all coding exons of MLH1, MSH2, MSH6, and PMS2, and coding exon 9 of EPCAM. 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.
Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology, using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). 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 of MLH1, MSH2, MSH6, and PMS2 using read-depth from NGS data and EPCAM using multiplex ligation-dependent probe amplification (MLPA) is also performed. Any copy number changes detected by NGS are confirmed by targeted chromosomal microarray and/or MLPA. 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. If a deletion is detected in exon 9 of EPCAM, deletion/duplication analysis of coding exons 3 and 8 of EPCAM will be performed. For EPCAM, only gross deletions encompassing the 3’ end of the gene are reported.
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.