Information on preliminary PGD workup

A vast array of genetic diseases can be analyzed by PGD, but first we must develop, optimize and validate the specific probes that will be used.

To validate a diagnostic single cell PCR protocol, before clinical application, extensive preclinical trials on single lymphocytes or cheek cells are necessary, in order to evaluate single cell amplification efficiencies and ADO rates for all the primers to be used in the procedure.

The pre-PGD workup for each couple includes blood sample (2-5 ml form both partners and affected children or family members, if any, see paragraph ?Prescription for Drawing Blood?, page 5) analysis of the prospective parents for mutation verification and informativeness for the polymorphic markers included in each assay. Additional family members may also be tested as the individual situation warrants. In some cases we also inquire for collection of cheek cells. The collection of blood and cheek cells allows preliminary analyses to be performed, which are essential to confirm that our PGD techniques will be applicable.

Once the samples are received, preliminary testing can be performed within a few weeks. Our test development and validation is performed under stringent conditions and highly skilled staff.

The probes we build for PGD families are custom-designed. GENOMA PGD lab is known globally for his ability to test for some of the rarest genetic conditions.

For many of the more common single gene diseases GENOMA can perform the necessary validation in about 4 weeks. For genetic diseases with variable mutations the development, optimization and validation procedures can take 1-2 months. Remember, there is no such thing as off-the-shelf PGD. A pre-PGD evaluation must be performed before the cycle begins for all patients.

Next: Development of PGD protocols

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