Lab tests can be done to check for the enzymes that are lacking in people that have Tay-Sachs disease. More cases can be found using lab tests than through DNA testing alone. Biochemical genetic studies may be done from a blood or urine sample, spinal fluid, or other tissue sample.
What is genetic carrier screening? Carrier screening is testing that's done to see whether you or your partner carry a genetic mutation that could cause a serious inherited disorder in your baby. Some of the more common disorders screened for include cystic fibrosis, sickle cell disease, thalassemia, and Tay-Sachs disease, but there are more than 100 others that can be tested for.
Genetic testing can provide information about a person's genes and chromosomes. Available types of testing include: Newborn screening. Newborn screening is used just after birth to identify genetic disorders that can be treated early in life.
Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.