Preimplantation Genetic Diagnosis

Preimplantation Genetic Diagnosis (PGD) is a test performed on embryos to avoid a specific genetic condition affecting your family. PGD has the ability to diagnose known hereditary disorders in embryos prior to pregnancy, to help assure your family that a healthy child is on the way.

Breeding Out Disease with PGD Testing

most-commonly-tested PGD cases at Genesis GeneticsWhat is a genetic mutation?

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.

PGD Technology

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.

Linkage Analysis

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.

Discussing your case with a Genesis Genetics counselor

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.

Genesis Technology

Karyomapping with PGD

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.

PGD Patient Enrollment Process
A test order and any relevant genetic documents will be sent to Genesis by your clinic.

A Genesis Genetics counselor will review and accept the case for testing.

Once the case has been accepted, a Genesis Genetics case coordinator will contact the patient to schedule a call with one of our genetic counselors.

Genesis will ship cheek brush kits to the appropriate family members of the patient.

Once consent forms and payment information have been received, samples can be sent from clinic for testing.

A personalized DNA test is developed for the family. Karyomapping takes roughly 2–4 weeks and STR analysis (rarely required) another 10–12 weeks.

Genesis Genetics will notify you and the patient that the test is ready, in which case the patient can begin IVF medications.

Our team will begin testing once the samples arrive at our laboratory. Results will be available within 7 days.

Results are directly released to the clinic and ordering physician.

What People Are Saying

  • My twin girls (Ellie and Kaya Schneider) are 7 years old this last Feb. Time flies. I'm still determined at some point in time to come to Detroit and meet you in person so I can shake your hand. I read a recent article from someone talking about how "test tube babies" don't turn out the same as regular babies mentally, etc. I wished I could have sent the author both my daughters school updates and let this lady know that both my girls are in the accelerated math and reading classes...probably doing better than the author's kids. Anyways, hope you are doing well and continuing to help so many families like you did for us 8 years ago!

    Mike & DannitPGS Patients
  • I wanted to share the wonderful news with you and your team that my husband Brett and I welcomed our baby girl, Charlotte Poppy, on February 11, 2016! We waited to find out the gender and were so very happily surprised to find out we had a little girl! She was 6.1 lbs. and 18.5 inches long when she was born, and was already 8.3 lbs. and 21 inches long at her 1-month appointment! We are so in love with her and are so grateful for what you all do to make this little miracle possible.

    MeganPGS Patient
  • Our clinic has partnered with Genesis Genetics for over 5 years and in that time we have discovered a dedicated team of professionals willing to go the extra mile for us AND our patients.  Their customer service and compassion-focused approach to providing a valuable service is second-to-none. We are honored to partner with such a wonderful company!

    Susan Walker, ELS (AAB), MT (AAB)Embryologist, Fertility Center, LLC
  • We just wanted to thank everyone that worked on our case, and to let them know that on this past Saturday, April 30, 2011, thanks to Genesis Genetics and RMA of New Jersey, we had a beautiful daughter named Khloe. She is 8 lbs., 3 oz., and healthy. Photos to follow soon. Please thank everyone that worked on our case—words cannot express how grateful Hanna and I feel. Thank you for everything that you all do day after day.

    Kevin & HannaPGS Patients
  • Abington IVF & Genetics has been using Genesis Genetics for our PGD/PGS cases for over 16 years. Customer service has been top quality. If we have questions regarding anything from procedures to shipping they answer our questions promptly and are always very friendly and willing to help. Patients are anxious to receive their results and Genesis Genetics has the results ready in a timely fashion. Our patients have been happy with their counseling services and our practice appreciates their professionalism.

    Scott E. Smith, PhD, HCLDAbington IVF & Genetics
  • While doing routine blood work for IVF, my husband and I were shocked to learn that we are both carriers for cystic fibrosis. We were so grateful to learn about Genesis Genetics and used Preimplantation Genetic Diagnosis. Words cannot express how joyful my husband and I are to have conceived two healthy girls, free from the dangers of this serious disease. Dr. Hughes and his staff were available to answer all of our questions and helped us when we were anxious during the process. We are so in love with our girls. Their health is a gift that we received from the team at Genesis Genetics.

    LauraPGD Patient
  • Our centers in California and in Utah have been clients of Genesis since those early FISH beginnings.  While the number of laboratories offering PGS/PGD has since exploded, Genesis has, through unabated integrity, remained our PGS/PGD gold standard.  In response to our endless unreasonable questions at unreasonable hours, Genesis staff have remained perennially patient, professional and always enlightening.

    Bronte A. Stone, MAgSc, PhD (Med), HCLD (ABB)Director of Laboratories, California Fertility Partners

Any Questions?

To speak with a Genesis representative, please reach out via phone or email.

Contact Us

Genesis Genetics welcomes the opportunity to discuss our services—and your specific situation—in more detail. Send us an email and we'll get back to you ASAP.

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