
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…