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24th Apr 2015

The pre-pregnancy test that can screen for 600 hereditary diseases

Would you test your genes pre-conception?

Katie Mythen-Lynch

A new test that screens for serious conditions such as cystic fibrosis, spinal muscular atrophy and haemophilia before conception is now available to couples in Ireland. 

Designed by the British biotech firm Randox, in partnership with Spanish company iGenomix, the test is currently available in the North only and costs £900 (€1,240).

More than 600 hereditary diseases can be identified, including sickle cell anaemia, Fragile-X syndrome and polycystic kidney disease, meaning parents can reduce the risk of passing on hereditary conditions to their offspring before conception.

Using a blood sample, the test checks 4,500 mutations and 549 genes. If both parents are found to be carriers of a mutation in the same single gene, then there is a high risk that they will have a child affected by that genetic disorder.

A recent study carried out by iGenomix found that when 85 couples were analysed 8% were found to be clinically incompatible, with haemophilia, retinis pigmentosa (blindness) and Smith-Lemli-Opitz Syndrome, polycystic kidney disease and cystic fibrosis discovered.

The test is available at Randox Health at the MediSpa, Culloden Hotel, Co Down, and Randox Health, Crumlin, Co Antrim.

Topics:

genetics