Organic Acidemia Genetic Testing
Organic acidemias are primarily detected and diagnosed with newborn screening and laboratory tests that measure the concentration of specific biomarkers in the blood and urine. These tests are used rapidly after birth, yield quick results, and can often be used to support a diagnosis even before a child becomes symptomatic. Even if an organic acidemia has already been diagnosed, genetic testing can be a powerful tool to confirm a diagnosis and inform more about your child’s individual case.
Genetic testing even after a diagnosis can help to:
- Inform a more personalized treatment plan
- Determine eligibility for research and clinical studies
- plan for future children
Interested in Genetic Testing?
The two best ways to start looking into genetic testing are to 1) ask your primary care provider or 2) connect with a genetic counselor. Your primary care provider can refer you to a genetic counselor or you can find one on the National Society of Genetic Counselors website.
Insurance Coverage
Many types of insurance will provide coverage for whole exome sequencing or even rapid whole exome sequencing for organic acidemia patients. This does not necessarily mean that full coverage will be provided.
Organic Acidemia Genetic Research
The Organic Acidemia Natural History Registry has surveys about genetic testing along with demographics, diagnosis, and treatment. This information can be helpful in determining genotype-phenotype relationships that can help clinicians predict symptoms you or your child may have before they occur. This can also help determine what treatments may work best for each individual. If you are interested participating in this important research, you can upload a pdf of your genetic testing report to the Genetic Testing survey in the OA registry.
