Our diagnostic tests
SureMart – For a couple planning a family, this test provides security and an actionable outcome. SureMart identifies the risk for the couple of passing on a pathogenic gene mutation to their child. Following the test, we can provide advice and solutions to minimise the genetic risk of having an unhealthy child.
This test provides a diagnosis for children or adults with undiagnosed genetic disease. ExoMart screens the individual’s Exome sequence – the coding part of DNA – and identifies the genetic mutation(s) responsible for the condition. Following the test, our genetic counsellors provide advice on an actionable course of treatment. We also offer genetic counselling to close family members to help them make informed life choices.
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How can I use SureMart in my medical practice?
- Each individual carries on average several tens of mutations that are potentially pathogenic when they are in the homozygous state, but benign when they are in the heterozygous (=carrier) state.
- Carriers are phenotypically normal and therefore not aware that they harbour a potentially pathogenic mutation.
- The probability of both members of a couple being a carrier of the same mutation is on average 2~3%.
- The probability doubles when both members of a couple come from the same family (consanguinity).
- When both members of a couple are carriers of the same mutation, the risk of having an affected child is 1 in 4 (25%).
- The affected child will be phenotypically abnormal – the severity of the phenotype is variable depending on the specific mutation.
SureMart identifies the mutation(s) that the couple carry in common.
QWhat conditions does SureMart test for?
QWhat is the test’s sensitivity?
QWho is SureMart for?
QWhat ACTIONS can the couple take once they receive the result?
If you’d like more information about how we can help you,
give our team a call on +44 161 920 8814 or email firstname.lastname@example.org