The lab performs molecular tests on children and adults to confirm or rule out familial mutations and to diagnose diseases tied to common mutations, such as Hemochromatosis, Thrombophilia, Achondroplasia, Familial Dysautonomia etc. the lab also performs prenatal diagnoses and familial linkage analyses.
Some of the tests can be performed on various DNA sources: blood, cells from the inner cheek, amniotic fluid, chorionic villus sampling and pathological blocks.
The lab also offers unique tests, such as:
- QF-PCR to rule out common aneuploidies - disruptions in the chromosomal array - in fetuses and newborns.
- X chromosome inactivation test
- UPD test
- Test to rule out maternal infection an fetal samples