Detecting 420 Disease Conditions
Focus Carrier Screening (6 Genes)
- Beta-thalassaemia (HBB)
- Alpha-thalassaemia (HBA1, HBA2)
- Spinal Muscular Atrophy (SMN1/SMN2)
- Glucose-6-Phosphate Dehydrogenase (G6PD)
- Fragile X Syndrome (FMR1)
Expanded Carrier Screening (420 Genes)
420 Genes and 420 Conditions
Who Is This Test For?
This test is for individuals and couples who are interested in carrier screening. This test is not specific to any one population or ethnicity, although, some diseases are more common in certain ethnic groups. According to the American College of Obstetricians and Gynecologists, pregnant women and women considering pregnancy should be offered carrier screening. Individuals planning to become egg or sperm donors may be offered this carrier screening as well.
What Are the Benefits of Carrier Screening?
Carrier screening provides information to assist in preconception planning and prenatal diagnostic testing for couples identified as carriers. If both partners are found to be carriers for the same recessive disorder, then prenatal testing such as chorionic villi sampling (CVS) or amniocentesis could determine if the baby is affected with the recessive disorder or not to help manage a current or future pregnancy. Additionally, in vitro fertilization with preimplantation genetic diagnosis (PGD) may be considered to reduce the risk of having an affected child.