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CustomNext-Cancer (up to 82 genes of your choice) logo

Is CustomNext-Cancer the right test for you?

If you have a complex personal – or family – history of cancer (in other words, have been diagnosed with more than one type of cancer), then this test could help you accurately diagnose, treat and manage the risks to your health.

The unique aspect of this test is the flexibility to choose from up to 81 genes to analyse – creating a precise panel tailored to you instead of having to taking a number of standard tests.

It is an ideal option if you would like to assess more or fewer genes than those currently found on existing panels.

To get this test you will first need a consultation with your clinician where you can ask if this is the most appropriate option 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

What sort of decisions will this test help me to make?

If you have not been diagnosed, this test will look at your risks so that you and your clinician can decide when to start any specific screening, such as mammogram/breast MRI, colonoscopy and, prostate cancer screening, and how often it should be repeated.

It maybe that you should consider preventative surgery such prophylactic mastectomy/colectomy (removing breasts or all or part of the colon before a cancer occurs) or other risk-reducing measures.

Informing treatment decisions

If you have been diagnosed, this test can help you and your clinician identify which could be the most effective chemotherapy for you – and importantly, any that are unlikely to be help you so that you can avoid unnecessary side effects. This test can also help determine whether you are eligible for any specific clinical trials.

Your family

This test can also indicate if other member of your family may have hereditary risk of developing 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.

ProcessClose 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 certain cancers, or if you have already been diagnosed, it will enable you to have an informed decision about treatment options and your eligibility for any relevant clinical trials.

 

CliniciansClose tab

Is CustomNext Cancer the right test for your patient?

For patients with a complex personal or family history of cancer, CustomNext-Cancer gives you the flexibility to choose from up to 81 genes to analyse so you can accurately diagnose, treat, and manage your patient’s cancer risks.

When to consider testing

  • Your patient’s complex personal and/or family history requires a unique panel of genes to assess (not found in an existing panel)
  • You would like to assess more or fewer genes than those currently found on existing panels

Mutation Detection Rate

CustomNext-Cancer can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

CustomNext-Cancer analyzes up to 81 genes selected by the ordering healthcare provider. All selected 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, if selected: 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. For MITF, only the status of the c.952G>A (p.E318K) alteration is analyzed and reported.

For EGFR, only the status of the c.2369C>T (p.T790M) and c.2327G>A (p.R776H) alterations are analyzed and reported. For KIT and PDGFRA, missense variants which are not located at or near activation domains, may not be routinely reported. When applicable, the inversion of coding exons 1-7 of the MSH2 gene and the BRCA2 Portuguese founder mutation, c.156_157insAlu (also known as 384insAlu) are detected by NGS and confirmed by PCR and agarose gel electrophoresis. For ALK, only variants located within the kinase domain (c.3286-c.4149) are reported. For PHOX2B, the polyalanine repeat region is excluded from analysis. 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 ordered genes (excluding CASR, CFTR, CPA1, CTRC, EGFR, MITF, PMS2, PRSS1, and SPINK1) 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, when applicable. For EPCAM, only gross deletions encompassing the 3’ end of the gene are reported. For NTHL1, only full-gene gross deletions and duplications are detected. For APC, all promoter 1B gross deletions as well as single nucleotide substitutions within the promoter 1B YY1 binding motif are analyzed and reported. For PMS2, gross deletion/duplication analysis is performed using MLPA kit P008-B1. 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:

Ambry Genetics

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.