PGD Conditions - Site Map PGD for single gene disorders- Monogenic diseases - History and Experience- Preliminary workup- Genetic Analysis- Mutation detection- Establishing a diagnosis- Monogenic diseases that can be diagnosed- Our experience in PGD for SGD- Example of the strategy used PGD for b-Thalassemia PGD for myotonic dystrophy PGD for Primary dystonia PGD for Duchenne muscular dystrophy (DMD) PGD for Congenital Adrenal Hyperplasia (CAH) - Issues Associated with PGD for SGD - Sending Samples - Guidelines for transport PGD PGD for HLA matching- Indications for preimplantation HLA matching- Diseases Treated with Stem Cells Transplantation Standard Therapies Therapies in Clinical Trials Experimental Treatments - Preimplantation HLA matching procedure Preliminary Analyses Informativity testing on couples Preclinical work-up Genetic Testing Multiplex PCR The HLA complex HLA haplotying - Example of PGD for HLA matching b-thalassaemia + HLA Wiskott-Aldrich syndrome + HLA Diamond-Blackfan anemia + HLA - Reliability of diagnosis- Limitations- Ethical considerations - Our experience in PGD for HLA matching- Accuracy of PGD for HLA matching PGD for inherited predisposition to cancer - Inherited cancer susceptibility- High and Lower penetrance conditions- Options for affected families - PGD for inherited cancer- Ethical issues - Protocols available in our Centre- Our experience in PGD for cancer PGD for late on-set disorders - Late-onset Disorders- Treatment Value- Our experience in PGD for Late-onset Disorders PGD for Aneuploidy Screening (PGD-AS)- Chromosome Aneuploidy- Risk of Aneuploidy and maternal age - PGD-AS Procedure- Establishing a diagnosis - Accuracy and Interpretations - Advantages of PGD-AS Procedure - Issues associated with PGD- Our experience in PGD - AS PGD for Chromosome Translocation- Chromosome Translocation Reciprocal Translocations Robertsonian Translocations - PGD Procedure- Preliminary Analyses- Advantages of PGD for translocation- Issues associated with PGD for translocation- Our experience in PGD for translocations References
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