What is a SNP (pronounced “SNIP”) Genetic Test?

What does SNP (pronounced “SNIP”) stand for?

SNP stands for Single Nucleotide Polymorphism and is a variation in the genome caused by a single nucleotide (or letter) that is missing, added, or changed among individuals.

What is SNPs role in genetic testing?

Every person’s DNA is “written” using a string of molecules called nucleotides. This may sound complex, but the DNA “alphabet” only uses 4 letters – A, C, G and T – representing the four molecules – adenine (A), cytosine (C), guanine (G), and thymine (T) – that identify each nucleotide.

When considering the BRCA 1 and BRCA 2 genes, for example, which are commonly associated with breast and ovarian cancer, they are made of hundreds and thousands of C, G, A and T letters arranged in a sequence.

For example:


A faulty gene is caused by a variation in a single letter (as illustrated in the ‘G’ above) This subtle mistake or variation is known as a SNP. A SNP is created when one copy of the genetic sequence differs from the other copy of that sequence by a single letter.

If we want to identify genetic contributors to a common complex disease like breast cancer, we can group together thousands of people who have breast cancer, and compare their SNP patterns to thousands of people who do not have breast cancer.

The Antegenes test analyses Single Nucleotide Polymorphisms (SNPs)

The Antegenes genetic risk cancer testing service analyses Single Nucleotide Polymorphisms (SNPs) to identify when one single copy of a genetic sequence differs by a single base from the other copy.

This result provides what is known as a polygenic risk score which gives a percentage risk of an individual developing the cancer tested for against a woman of her age in the normal population.

This innovative cancer testing service looks for the overall risk of an individual developing cancer in the next 10 years. It is not, however, suitable for anyone who has been diagnosed with cancer and it does not look for the risk of reoccurrence if you have had cancer in the past.

Taking the Antegenes test

The Antegenes test is non-invasive and is quick and easy to do. By providing a simple ‘saliva test’ that you can do in your own home, your sample will be sequenced, and your genes analysed in our laboratory. A report will then be generated, usually within 4 weeks and you will receive expert clinical support before and after taking the test so that you fully understand the benefits, limitations and potential implications of taking this test. This process is fully supported by our in-house medical team, led by Consultant Genetic Oncologist, Dr James Mackay.

We are fortunate that celebrities like Julia Bradbury are raising awareness for genetic screening, following her diagnosis, and emphasising the importance for everyone to understand their level of risk of developing cancer regardless of their family history.

The Antegenes test allows everyone to get a definitive answer of whether they have a genetic risk of developing cancer so that a treatment plan such as regular screenings can be put into place from an early age to help the disease from occurring and therefore saving more lives.

Find out more about our Antegenes tests and how to order.