Monogenic conditions are those that are caused by mutations in a single gene, rather than by several different genetic and environmental factors.
PGT-A, or preimplantation genetic testing for aneuploidies was formerly known as PGS, preimplantation genetic screening.
The NIPCare® test is a non-invasive prenatal test (commonly ter med an NIPT) that screens for Down Syndrome and certain…
For certain patients the combination of symptoms does not allow the clinician to pinpoint a potential diagnosis. In such challenging cases…