Technical Details on Development of PGD protocols

Using blood samples and buccals cells, Genoma develops patient-specific PGD protocols which shall detect, for mutation-specific genetic disease, whether the tested embryos are non-affected, carrier, or affected by such disease, based on analysis of one to two cells from such embryo of the mutation and linkage markers. 

The PGD protocols includes:
(a) primers for the mutation(s), and
(b) primers for at least 2 STRs linked to the relevant gene.
Wherever possible, the linked markers will be tetranucleotides, to avoid artifacts at single cell level, and preferably located one upstream and one downstream to the gene. 

In every case, where possible, the STRs will be fully informative (i.e., 4 different alleles, father a/b and mother c/d) for the patients under study. Where this is not possible, markers with father (a/a) and mother (b/c) will be preferably selected, rather than father (a/b) mother (c/c), or father (a/b) mother (b/c). Where none of the above conditions are not possible, the PGD protocols includes at least two or more semi-informative linked STR markers (di- or tetranucleotide repeat). 

Genoma shall also provide a report which includes details of the amplification rate of each PCR (mutation and markers), and the ADO rate found for each PCR. Genoma shall determine this information by analyzing at least 50 isolated buccal cells or single lymphocytes from both carriers of the mutation (i.e., the patients). 

Samples necessary for PGD protocols development are the following: 

DNA or Blood samples from each partner of the couple
•      Buccal swabs from each carrier; and 
DNA or Blood samples from affected children of the couple (if any) or other carrier/affected members of the families.
Documents necessary for PGD protocols development are the following: 
Genetic report containing a clear description of the gene(s) and the mutation(s) involved (if known); and
Genetic counseling containing as much information as possible on the transmission of the specific disease (and mutations) in the families (i.e. genealogical trees, etc.). 

Genoma will complete each PGD protocol within three months (90 days) of its receipt of all samples necessary for the development of same. For existing PGD protocols, the turnaround time will be 30-60 days.