Preconception
- Carrier screening: This test identifies if the parents carry genes for specific genetic disorders that could be passed on to their child.
- Chromosomal analysis: This test examines the chromosomes to detect any structural abnormalities or changes in chromosome number that could lead to genetic disorders.
- Polygenic risk assessment: This test determines an individual’s risk of developing certain complex genetic conditions, such as heart disease or type 2 diabetes, based on their genetic profile.
- Cystic fibrosis carrier testing: This test identifies carriers of the gene for cystic fibrosis, a genetic disease that affects the respiratory and digestive systems.
- Spinal muscular atrophy carrier testing: This test identifies carriers of the gene for spinal muscular atrophy, a genetic disorder that causes muscle weakness and wasting.
- Thalassemia carrier testing: This test identifies carriers of the gene for thalassemia, an inherited blood disorder that affects hemoglobin production.
- Tay-Sachs disease carrier testing: This test identifies carriers of the gene for Tay-Sachs disease, a genetic disorder that leads to progressive destruction of the nervous system.
It is important to consult with a healthcare provider to determine which genetic tests are recommended based on individual and family history, as well as personal preferences.