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Prevent the transmission of single gene diseases in a family and achieve a healthy pregnancy

1. What is preimplantation genetic diagnosis?

Prevent genetic diseases - Preimplantation genetic diagnosis PGD

Preimplantation genetic diagnosis (PGD) for single gene disorders is a powerful genetic test that may be performed during IVF treatment to screen embryos that are at risk to develop a serious genetic disease. PGD is performed on a small embryo biopsy and identifies which embryos are not at increased risk of developing the disease. The goal of PGD testing is to help couples build a healthy family. PGD is done before the pregnancy is established and helps avoid difficult decisions and situations.

PGD helps couples who have an increased risk for a genetic disease conceive a healthy pregnancy.
Our DNA is organized into small segments called genes. There are about 25,000 genes in humans, all of which influence our growth and development. Just like chromosomes come in pairs, most genes also come in pairs, one copy inherited from the egg and the other from the sperm. When the function of a gene is altered by a change (called a mutation) in the DNA sequence, a genetic disease results. These mutations can be transmitted in families from generation to generation, or can be a new change in an individual (de novo).

Common examples of conditions caused by mutations in single genes (monogenic diseases) include spinal muscular atrophy (SMA), cystic fibrosis, and Fragile X disease. During the IVF process, PGD can be used to screen embryos for these conditions. Embryos that are not at increased risk for developing the single gene disorder are identified and preferentially transferred for the pregnancy. The goal of PGD testing is to help couples build healthy families.

More information:

To perform PGD testing, a set-up test is required. A unique probe is customized for each couple and used to perform PGD testing on embryos. To build the probe, blood samples from the couple and often from other family members are required. IGENOMIX’s team is made up of the world’s finest experts in the PGD field who are able to design probes for even the most rare and complicated mutations. Our set-up time needed to develop the probe is the fastest in the country.

PGD 7 days
IGENOMIX uses state of the art technology for PGD. Whenever possible, IGENOMIX uses a multiple detection approach to ensure the most highly reliable results. Using direct detection, PCR is used to detect the specific disease causing mutation. Linkage analysis uses PCR to detect informative STR markers that are linked to the disease-causing gene. Our multiple detection strategy minimizes the chances of no results or misdiagnosis due to allele drop out (ADO). With our technology, our PGD testing is 98-99% accurate.

2. Who should use PGD testing?

PGD is indicated for couples who have increased risk for having a child with a single gene disorder. Common examples of monogenic diseases are cystic fibrosis, fragile X syndrome, spinal muscular dystrophies (SMA), Duchenne muscular dystrophy (DMD), Huntington disease. Some conditions are inherited in an autosomal dominant manner and can be inherited by an affected parent. Other conditions are inherited in an autosomal recessive manner and can be inherited from two unaffected carrier parents. Still other conditions are sex-linked and can be inherited by an affected father or a carrier mother. Not all genetic diseases are caused by mutations in single genes or can be tested for with PGD.

Couples with personal or family history of high risk for severe monogenic diseases.
Fertile couples who have a known history of a genetic condition in their families can consider PGD testing. Couples who are already undergoing IVF therapy for infertility can consider additional pre-conception screening to identify conditions for which their offspring might be at increase risk of developing. PGD testing could then be considered for any condition for which the couple’s offspring are at risk. Our goal is to prevent transmission of monogenic diseases that cause seriously illnesses to future generations.

At IGENOMIX, we can perform PGD for virtually any single gene disorder. Below is a list of diseases commonly tested for at IGENOMIX.

Panel of Frequent Monogenic Diseases**

  • Autosomal Dominant Polycystic Kidney Disease
  • Autosomal Recessive Polycystic Kidney Disease
  • Becker muscular dystrophy
  • Beta thalassaemia
  • Congenital adrenal hyperplasia (gene CYP21A2)
  • Cystic fibrosis
  • Charcot-Marie-Tooth type 1A
  • Duchenne muscular dystrophy
  • Familial amyloid polyneuropathy
  • Fragile X syndrome
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • Huntington’s disease
  • Multiple endocrine neoplasia, type 2A
  • Myotonic dystrophy (Steinert)
  • RhD incompatibility
  • Spinal muscular atrophy
  • X-linked adrenoleukodystrophy

3. What are the advantages of PGD testing with IGENOMIX?

  • Identify embryos affected with a genetic disease prior to implantation
  • Unique probe custom-designed for every couple
  • Fastest PGD set-up in the country:
    • 3 weeks for common diseases/mutations
    • 6 weeks for rare diseases/mutations
  • Complete PGD counseling at no additional cost with experienced genetic counselors certified with the American Board of Genetic Counseling
  • Extremely flexible with every case. We understand each patient is unique
  • World’s finest experts in the PGD field who are able to design probes for even the most rare and complicated mutations
  • Senior team who analyze results for every embryo along with double signature on all result reports
  • Banking/batching program for low responders
  • Proprietary embryo biopsy buffer formulated to maximize DNA amplification yield
  • 24/7 phone service with Laboratory Director or Manager.
  • On-site training of embryologists available
  • No additional charge for egg or sperm donor cases
  • Guaranteed outstanding customer service

4. FAQ’s

1. To perform PGD for a single gene disorder, is it required to have identified the mutation causing the disease?

In most cases, documentation of the mutation responsible for the disorder is necessary. In some cases, a clinical report with a clear family history can be sufficient.

2. Should PGS for aneuploidy screening be performed in conjunction with PGD testing?

Aneuploidy is a numerical chromosome abnormality. IGENOMIX recommends that PGS for aneuploidy screening be performed on conjunction with PGD testing. Both tests can be done on the same embryo biopsy, and so there is no additional risk to the embryo to do PGS testing. PGS for aneuploidy screens for abnormalities in chromosome numbers that could cause miscarriage or could result in the birth of a baby with birth defects and mental retardation. Down syndrome is an example of a genetic disease that is caused by a numeric chromosome abnormality. The risk of having embryos with aneuploidy increases with maternal age. The goal of PGS testing is to identify embryos that are the most likely to develop to term and to be born healthy.

3. After the probe has been developed, how soon must IVF be completed?

After the probe has been developed, the IVF cycle and testing of embryos can be completed at the convenience of the patient and the clinic. The probe can be kept long term. Patients needing to delay IVF for longer than 6 months after the probe has been developed should make special arrangements with IGENOMIX.

4. If PGD testing has been done for a previous cycle, is there still a set-up time required for another PGD cycle?

No, there is no set-up time necessary for subsequent PGD cycles. This is because the same probe that was made for the couple can be used again for any future testing. If a probe has been made for previous PGD testing with IGENOMIX, we can proceed directly with embryos testing for future PGD cycles.

5. Can you perform Batch/Banking?

Yes, we can do batching. IGENOMIX accepts embryo samples from multiple cycles. The embryo biopsies can be sent separately at each cycle, or the clinic may store the biopsies. IGENOMIX will store them with no additional charge. IGENOMIX will wait until the clinic notifies us that the last batch is being sent. At that time, IGENOMIX will perform the test for all embryo biopsies at the same time and provide results as a single report. The costs incurred will be for one PGS test. There is no additional fee for batching of embryos, however, a shipping fee will apply each time samples are sent from the clinic. Payment needs to be done at the beginning of the Batch. Please make sure that you discuss this option with your Doctor so the clinic informs us. The report will be sent to the clinic once the clinic informs us that Batching has been completed.

6. Why did I receive a request for payment when I have already paid my clinic?

PGS testing involves two parts (1) Biopsy performed by the clinic and (2) the genetic test performed by IGENOMIX. We charge only our part.

7. Where are my samples going, LA or Miami?

The embryo samples are sent to the lab that has optimal logistics with time and cost. The protocols and procedures are the same in both labs, and both labs are of equal quality.

8. I am doing a PGS and a PGD test, can I use same documents for both of them?

We will need separate consent and requisition forms. Although you can use the same HIPAA form for both tests.

9. Will I be charged for embryo testing if I change my mind or I am not satisfied with the number of embryos I obtained

Our financial team will charge you as soon as we get confirmation from your doctor that testing will take place. This is usually several days prior to embryo biopsy. However, if you change your mind, or the embryos don’t develop to where you can do the biopsy, we will refund your payment in full, with no cancellation fee.

10. I have already identified my mutation with another laboratory. Why does IGENOMIX need blood samples again?

You have done all the right steps so far. Prior to working with IGENOMIX, a mutation must be identified. This usually involves testing with another laboratory because IGENOMIX does not provide genetic test results for adults. IGENOMIX’s role is to test embryos for the mutation, and to do this, we have to build a probe. The probe is what we use to perform the genetic test on the embryos. When we test embryos, in addition to looking for the mutation, we also look for linked genetic markers. Our approach of looking for a combination of the mutation plus the markers increases the accuracy of the test. The markers themselves have no medical relevance, but they provide an additional way of tracking the mutation in the embryos. The purpose of obtaining blood samples for PGD is to help build the probe. Each couple will have a different set of markers that can be used. We need blood samples from both members of the couple to find the set of available markers. We also need DNA samples (blood or cheek swab) from family members to help determine which markers are linked to the mutation and which markers are linked to the normal copies of the gene.

5. Testimonials

I researched many labs before going with IGENOMIX for PGD (CF carriers) and PGS. Price was a factor, but more important was the test process, accuracy and timing. IGENOMIX was by far the fastest lab to create a test probe for PGD (some labs were quoting 16 weeks?!). The process was all smooth and Dr. Snider, the genetic counselor, was warm, knowledgeable and consistently accessible. She helped make the process a little less stressful and for the first time helped us feel like we had an advocate in this long journey.

Nicole, 34, Austin TX.

I am very thankful to Dr Alyssa Snider, Genetic Counselor, for all the help. She was very informative and address all my concerns. I could approach her any time over phone and email.


I did PGD to screen for a hereditary disease which has affected my family for multiple generations. Thanks to IGENOMIX I am the first of my family to stop the spread of this disease. PGD can be very confusing and the information on it is limited, however having my own genetic counselor at IGENOMIX who knew my situation and could answer all my questions made the process much smoother. She was easy to get a hold of and I could tell she generally cared about me and what I was going thru. When we decide to expand our family I will definitely use IGENOMIX again.


I would recommend IGENOMIX to anyone wanting PGS/PGD. Dr. Alyssa Snider was such a pleasure to work with. It was such a stressful time for us and she was always available for any questions or concerns I had. She explained everything for me in detail- as many times as I asked her to. It was because of her I felt so comfortable and at ease throughout the whole process. We are now expecting and couldn’t be more happy. Thank you again Alyssa for everything.