Monogenic diseases that can be diagnosed by PGD

Almost all genetically inherited conditions that are diagnosed in the prenatally can also be detected by PGD.

It is possible to perform PGD for any genetic disorders, autosomal dominant, recessive or X-linked, with an identifiable gene.

 For pathologies caused by expansions of nucleotide triplets (such as Fragile X, Huntington's disease, Myotonic Dystrophy, etc.) it is possible to obtain information on the absence of triplet 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 gene.
 

Optimisation of PGD protocols for all diseases and mutations on request
Monogenic disease are always tested in combination with linked STR markers. Mutation analysis is performed by using minisequencing technique (if the mutations are known), linkage analysis (unknown mutations) or fluorescent PCR.

Aneuploidy screening is also offered in combination with mutation analysis for the following indication:
- recurrent miscarriages (RM): Chr 13, 14, 15, 16, 17, 21, 22, X
- repeated implantation failure (RIF): Chr 14, 16, 17, 21, 22, X
- advanced maternal age (AMA): Chr 13, 18, 21, X, Y

In PGD cases where the mutation is unknown (only clinical diagnosis) mutation screening by sequencing of the disease causing gene is also offered.







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