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GYNPlus (13 genes) logo

Is GYNplus the right test for you?

 

This test is looking at gene mutations in women which indicate high or moderate risk of ovarian and uterine cancer.

It may be that you have these or other cancers in your family – or maybe you have already had a diagnosis for one of them. Your clinician can explain the specific criteria which would make this the right test for you.

The results will enable you to plan screening or preventative treatment to minimise your risk and improve overall survival rates.

To get this test you will first need a consultation with your clinician, 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

Helping you make decisions

Understanding whether you have a genetic predisposition to cancer allows you to make informed decisions about monitoring and treatment.

For example, you could decide to begin screening at an earlier age that would be considered normal – and to repeat it more frequently.

You may also need to decide about treatment – perhaps whether to have a preventative or

‘prophylactic’ oophorectomy (removing the ovaries and Fallopian tubes before a cancer occurs). This test can give you and your clinician the vital knowledge to make those decisions.

For your family

It’s also important to share the test analysis with your family: because, there could be implications for them too. Knowing if certain gene mutations are in the family means everyone can ensure they receive regular monitoring and screening.

 

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 labo

Your clinician will receive the test report giving a clear indication of whether you are at risk of ovarian or uterine cancer, or if you have already been diagnosed, what steps you – and possibly other members of your family – need to take next.ratory.

Step 4: Results

Your clinician will receive the test report giving a clear indication of whether you are at risk of ovarian or uterine cancer,or if you have already been diagnosed, what steps you –and possibly other members of your family –need to take next.

CliniciansClose tab

Is GYNplus the right test for your patient?

GYNplus is a next generation sequencing panel that simultaneously analyses 13 high risk and moderate risk ovarian and uterine cancer susceptibility genes, all with published management guidelines.

When to consider testing

  • Ovarian cancer at any age
  • Uterine cancer diagnosed <50 years of age or with abnormal MSI/IHC
  • Multiple primary cancers in one person (e.g. uterine and breast or thyroid cancer)
  • Multiple close family members with ovarian or uterine and other cancers (on the same side of the family)
  • Cancer histories that are suspicious for both hereditary breast ovarian cancer and Lynch syndrome

Mutation Detection Rate

GYNplus can detect >99.9% of described mutations in the included genes listed above, when present (analytic sensitivity).

 

Test Description

GYNplus analyses 13 genes. 12 genes (excluding EPCAM) 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). The inversion of coding exons 1-7 of the MSH2 gene is detected by NGS and confirmed by PCR and agarose gel electrophoresis. The BRCA2 Portuguese founder mutation, c.156_157insAlu (also known as 384insAlu) 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 13 genes using read-depth from NGS data with confirmatory multiplex ligation-dependent probe amplification (MLPA) and/or targeted chromosomal microarray. 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.