It takes any combination of 26 letters to spell a word in the English language. Life, on the other hand, only needs 4 letters (ATCG). Sometimes a small typo can occur with the spelling of a word in your genetic makeup. This change occurs in your DNA and is called a “mutation.” Mutations can cause heritable genetic diseases and can either be passed down in families from generation to generation, or can be a new change within an individual’s makeup. Genesis Genetics has successfully tested mutations associated with more than 500 genetic disorders worldwide.
Preimplantation Genetic Diagnosis locates these mutations and weeds them out before pregnancy occurs. Our technology was developed more than 25 years ago, helping to bring the first successful cases of PGD to couples at risk for heritable genetic disorders. Since 2002, the scientists at Genesis Genetics have been recognized as the leaders of PGD testing and continue to push the abilities of PGD technology. We are globally recognized for our ability to test for the rarest genetic conditions.
Preimplantation Genetic Diagnosis is performed by a genetic test known as “Linkage Analysis,” which links the disease-causing mutation to the DNA region that carries the mutation. Linkage Analysis is achieved by studying genetic markers unique to you, as well as other family members.
Linkage Analysis allows scientists to easily track which individual chromosomes are being passed down from one generation to another by identifying a common fingerprint or “barcode” from each side of the family. These genetic markers are used to identify which copy of each person’s chromosome is “linked” to the gene mutation, and which copy is healthy.
Here’s another way you might think of it: Imagine you’re looking for a friend in a crowd of people (something we’ve all done, probably many times). If you know he has brown hair but don’t know much else, it might to be hard to spot him. After all, there are a lot of people in the crowd and he could be wearing a hat! But if you have more details – is he tall? Thin? Wearing a red shirt, blue jeans, and black shoes – it’s more likely you’ll recognize him.
It’s the same idea with Linkage Analysis. We can go from using a single data point (in the example of your friend’s brown hair) to many, which gives us more information to make an accurate diagnosis.
All PGD-enrolled patients and their partners have a conference call with one of our board-certified genetic counselors. During this meeting, you will be able to discuss your family’s genetic history. You’ll be informed about how the PGD testing process works and how Genesis Genetics can help you. This is a great opportunity to get to know us better and to familiarize yourself with The Genesis Commitment.
As knowledge of the human genome has progressed, more powerful types of DNA markers have been developed. Genesis Genetics is pleased to offer our Karyomapping platform, which utilizes these new scientific advances. Karyomapping incorporates gene chip microarray analysis to streamline the PGD testing process. Karyomapping is revolutionizing embryo testing for single gene disorders, significantly increasing the number of diseases available for screening and dramatically shortening the time required for each family’s test development.