Preconception genetic testing for couples and gamete donors
The carrier screening panel is a genetic test that simultaneously analyses mutations in at least 420 genes which cause recessive and x-linked inherited pathologies. Diseases with a recessive inheritance pattern, like cystic fibrosis, are those in which the affected subject inherits two mutations, one from each healthy carrier parent. The theoretical risk for these couples is 25%.
There are 3 Bioarray Advance tests:
Bioarray Advance ensures full compatibility with the main platforms in the market, being the most expanded test gene wise. The report is also more compact and educational for patients and donors.
The purpose of this test is to know if a person is a healthy carrier of gene mutations related to recessive genetic diseases. The knowledge of someone having a carrier status is extremely valuable to determine the specific reproductive risk and to program suitable medical action aimed at avoiding such risk.
a.- General population: couples without a personal or familial genetic disease background who, in a preconceptional context, wish to know their risk of conceiving a child affected by a specific recessive inherited disease.
b.- Consanguineous couples, who have an increased risk of recessive disease occurrence in their offspring.
c.- People of ethnic backgrounds in which some recessive diseases are more prevalent.
d.- Couples that will undergo Assisted Reproduction treatment, as a complement to other diagnostic tests.
e.- In Assisted Reproduction Units the test can be used for sperm/egg donors, for a better selection and risk reduction of recessive disease transmission.