Preimplantation Genetic Screening - Ordering

Note: The information on this page is intended for health care providers. If you are a patient who is seeking information about Preimplantation Genetic Screening, please visit our general PGS information page.

Mount Sinai is the first in Canada to offer aCGH Preimplantation Genetic Screening, a microarray-based technique which screens eggs or embryos for abnormalities in all 24 chromosomes to confirm that the correct number of chromosomes is present. This technology enables the selection of only chromosomally normal eggs or embryos for transfer in an IVF/ICSI cycle, which many researchers believe can improve the chances of pregnancy and delivery.

Two types of PGS are available. It is very important that each couple has their individual circumstances assessed by their practitioner to determine the appropriate test. Before testing, patients should be advised of the benefits, risks and limitations of the test.

PGS: Aneuploidy screening

Examines all 24 chromosomes: the 22 non-sex chromosomes, plus the two sex chromosomes (X & Y) for unbalanced chromosome changes. PGS confirms that the correct number of chromosomes is present in an egg or embryo.

PGS is ideal for cases of repeated IVF failure in which aneuploidy is suspected.

PGD: Aneuploidy screening and translocation diagnosis

For patients at risk of transmitting a specific genetic or chromosome abnormality, PGD delivers increased genomic coverage to enable measurement of arm level aneuploidy and other large scale structural imbalances. Approximately twice as many measurements are made in order to enable accurate characterization of unbalanced translocations and other structural abnormalities in addition to standard aneuploidy detection.

PGD is suitable for cases of recurrent miscarriage where parental cytogenetics indicate balanced translocations which may predict unbalanced translocations in the embryo.

Limitations

Note that PGS/PGD testing cannot detect a complete additional or missing set of chromosomes, i.e. haploidy and polyploidy which occur in up to 10% of embryos. In addition, the testing will not detect mosaicism.

How to Order PGS / PGD

The documents below (Adobe PDF format) provide instructions for sample collection, preparation and shipping, as well as the required notification and sample submission forms.

1. Specimen Notification Form

Please complete and fax the Specimen Notification Form to (416) 586-8882 at least 24 hours prior to the scheduled procedure. For rush 24-hour orders, please fax the form at least 3 days prior to the scheduled procedure.

Should the test be cancelled after the Specimen Notification Form has been faxed, please re-fax the original Specimen Notification Form to (416) 586-8882 with the word CANCELLED written across the form, as soon as possible.

2. Sample Submission Form

Please include a completed Sample Submission Form with each of your sample shipments.

3. Collection Guide

The Collection Guide provides detailed, step-by-step instructions for sample preparation.

4. Single Cell Washing and Handling Guide

This technical note provides instructions for washing dissected single cells and loading them into PCR tubes.

5. Packaging / Shipping Guide

This shipping guide provides detailed instructions for preparing the samples for shipping to Mount Sinai.

For local Toronto deliveries, please call KJV Courier Service (416-398-5155) to schedule a pickup. Ensure that you specify the parcel is a PGD Transport to Mount Sinai Hospital, as dedicated couriers have been assigned. Early morning pickups should be scheduled the day prior to pickup. Specimens are to be delivered to:

Mount Sinai Hospital
Joseph and Wolf Lebovic Health Complex
600 University Avenue, 6th Floor, Toronto, ON M5G 1X5

Attn: Microarray Facility, Room 6-313