Molecular PGD

First consultation

In order to know whether or not it is possible to do PGD for a certain disease we need:

  • A complete clinical and genetic report about the patient, with details regarding their disease and mutation. If the patient does not have a complete study of the mutation then please contact the Genetics Laboratory at Institut Marquès.
  • Detailed family history. To help provide this information you should fill in and send to the Genetics Laboratory at Institut Marquès the following document: Request for information from patients for the study of monogenic diseases.

You can send the first consultation to the Genetics Laboratory at Institut Marquès via email or fax, together with the family and genetic history you have available:

+34 93 205 48 29

After this, the Genetics Laboratory will study the case, work out if this illness can be diagnosed using PGD, and will offer genetic counselling.

Informativity study

Prior to starting an IVF cycle with PGD it is necessary to complete an PGD Set up study. To be able to do this, our staff will be able to advise you regarding each step of the process. Normally it is necessary to send the following to the Genetics Laboratory at Institut Marquès:

  • Blood and/or buccal cells from both partners, and also from any other family members who are either carriers of the illness or are directly affected by it. Send a 5ml blood sample with EDTA as the anticoagulant, or a set of oral mucosal cell swabs, for each person (check each case with the Genetics Laboratory at Institut Marquès):- Taking a blood sample: In order to facilitate this, use the following instructions for taking blood samples from patients: Instructions for blood sampling in preparation for PGD for monogenic diseases.- Buccal cell Collection: this is very simple and can be done at your centre for Reproductive Medicine. It is necessary to use sterile swabs that the Genetics Laboratory at Institut Marquès can provide when needed. In order to facilitate the process of taking the sample, use the following instructions: Protocol for the sampling of buccal cells.
  • Please complete and send with this:- The list that explains the samples that are being sent filling in the following document: Sending samples for the PGD set up study of monogenic diseases.

Once the PGD set up study of monogenic diseases has been completed, the Genetics Laboratory at Institut Marquès will get in touch with you to advise you that the fertility treatment can be started.

Contact the Genetics Laboratory at Institut Marquès

  1. Prior to starting treatment, to outline the case (via telephone or email)
  2. When the date of egg collection is confirmed (via telephone or email)
  3. If the cycle is cancelled(via telephone or email)

+34 93 280 40 28
+34 666 58 21 41

Day+0 – the day of egg collection under ultrasound guidance: Inform the Genetics Laboratory at Insttitut Marquès.

Day+3 – Embryo biopsy: Staff from the Genetics Laboratory at Institut Marques can come to your centre to complete the embryo biopsy, or the blastomeres can be sent already tubed to the Genetics Laboratory at Institut Marquès.

Sending samples:

  • The microtubes with the PGD samples (the blastomeres and controls) should be kept on the rack for microtubes (safely positioned with the cold accumulators), and this placed in the same box that was sent with the other material from the Genetics Laboratory at Institut Marquès.
  • Prepare the following documents:
    • Request form for Preimplantation Genetic Diagnosis (PGD).
    • Forms for tubing blastomeres in embryos prior to PGD for monogenic diseases.
  • Send via email the name of the courier service used, and the number/code of the package to dgpi@institutomarques.com.
  • Send via courier to:

Results

The results will be sent 3 weeks after the sample arrives in the Genetics Laboratory at Institut Marquès. Once the results are obtained these will be sent by encrypted email.