Additional analysis:
A) Certain polymorphism: patients can profit from being aware of the
presence of certain aleles associated with Lactose or Glutan Intolerance, Crohn
disease or susceptibility to thrombosis. At the same time, some pharmacologicaly
important genetic variants may interfere with treatment and thus its awareness
may prevent complications.
Based on the nature and importance of these variants, their presence in
patients DNA will always be reported, unless the patient decides not to.
B) CFTR and PAH
genes: Mutations in these two genes lead to two
major autosomal recessive (AR) diseases with a relatively high incidence in the
Czech population. By informing a proband about the fact, that he or she is a
carrier (his/her DNA carries one mutated allele) of any of those two genes may
lead to preventive measures. If a partner of a proband is also a carrier of a
mutation in CFTR or PAH genes, then there is a 25% risk of developing a
severe health problems. This analytical approach should thus lead to decrease
of pathologies associated with two-allelic losses in genes CFTR or PAH in the Czech
population.