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How can you detect such small mutations in an infertile couple’s DNA?

Category: Fertility Assessment

1 fertility expert(s) answered this question

Small genetic mutations - how can you detect them to be able to help infertile patients?

Small genetic mutations like letter swapping, small deletions, or letter insertions can be only detected by using specific techniques at a genetic laboratory. How accurate are these tests? Can they predict if the small genetic changes you have affect your fertility and/or your IVF cycle?

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Answer from the fertility expert:

Douglas Lester, Co-Founder & Chief Scientific Officer, Fertility Genomics

Small letter and changes like letter swapping, small deletions, or insertion can only really be picked up by this modern technique, which has been around the last ten years or so, called Next Generation Sequencing. For example, our company Fertility Genomics uses the most economical method known as Exome Sequencing or Whole Exome Sequencing. This is capable of picking up at least 85% of all DNA mutations. Following that, our unique statistical analysis can then predict with 99% accuracy whether DNA change is likely to affect IVF cycles.

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