| What are the
pathologies that can be diagnosed by PGD DNA analysis? Almost all genetically inherited conditions that are diagnosed in the
prenatal period can also be detected in the preimplantation period. Diseases which have a
high risk of transmission (25-50%) and are usually associated with significant morbidity
and mortality can be screened for by this technique.
It is possible to perform PGD for any
genetic disorders, autosomal dominant, recessive or X-linked, with an identifiable
mutation. For pathologies caused by expansions of nucleotidic triplettes (such as Fragile
X, Huntington's disease, Myotonic Dystrophy, etc.) it is possible to obtain only
information on the absence of triplette expansion. Whether or not to undergo examination
must therefore be evaluated case-by-case. Below is a table listing of the most
frequent genetic diseases that can be diagnosed by PGD.
Research and Development Section of Genoma
Laboratory is able to set-up and perform PGD for any genetic disorders with an
identifiable mutation.
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