Diagnosis and Testing
Obtaining a definitive genetic diagnosis is an important first step in seeking appropriate care and treatment, learning about potential research or therapies that may become available, and preparing for the future. Patients and their families should consider discussing the implications of obtaining a diagnosis of AGU with their physician and a genetic counselor or other specialists who are familiar with the disease management of AGU.
Similar to other neurological conditions, developmental delay is an early observed symptom of AGU. As such, common misdiagnoses for AGU may include autism and attention deficit hyperactivity disorder (ADHD) as awareness of AGU is very low.3
If you believe your child is showing signs or symptoms of AGU, tests are available for a physician or other healthcare professional to order to help confirm a diagnosis.4,5,6
Testing for AGU may not be included in standard testing panels; however, upon request, a diagnostic genetic test for AGU can confirm a diagnosis. Your physician can help you navigate the process or refer you to a geneticist. Many academic and commercial laboratories offer genetic blood testing.
You may also learn more about a no-charge genetic testing and counseling program by downloading information using the button below.
While third parties and commercial organizations may provide financial support for this program, tests and services are performed by Invitae. Healthcare professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified patient data from this program, but at no time would they receive patient identifiable information. Third parties and commercial organizations may receive contact information for healthcare professionals who use this program. Genetic testing and counseling are available in the US and Canada. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any other products or services from Invitae or from third parties or commercial organizations.
A representative is available to help you by calling 1-877-237-5020 or via email at firstname.lastname@example.org.
- Lokko, H. N., & Stern, T. A. (2015). Regression: Diagnosis, evaluation, and management. The Primary Care Companion for CNS Disorders, 17(3). Retrieved June 5, 2019 from link.
- Arvio, M., & Mononen, I. (2016). Aspartylglycosaminuria: a review. Orphanet Journal of Rare Diseases, 11(162). Retrieved June 5, 2019 from link.
- Malm, G., Mansson, J., Winiarski, J., Mosskin, M., & Ringden, O. (2004). Five-year follow-up of two siblings with A rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturbance, and shortened lifespan. There are currently no available treatments for AGU. undergoing allogeneic stem-cell transplantation from unrelated donors. Transplantation, 78(3): 415-419.
- Xia, B., Asif, G., Arthur, L., Pervaiz, M. A., Li, X., Liu, R., Cummings, R. D., & He, M. (2013). Oligosaccharide Analysis in Urine by MALDI-TOF Mass Spectrometry for the Diagnosis of Lysosomal Storage Diseases. Clin Chem, 59(9):1357-1368. Retrieved June 12, 2019 from link.
- Mononen, I., Mononen, T., Ylikangas, P., Kaartinen, V., & Savolainen, K. (1994). Enzymatic diagnosis of aspartylglycosaminuria by fluorometric assay of glycosylasparaginase in serum, plasma, or lymphocytes. Clin Chem, 40(3):385-8. Retrieved June 12, 2019 from link.
- Romppanen, E. L., & Mononen, I. (1999). PCR-Oligonucleotide Ligation Assay from Dried Blood Spots. Clin Chem, 45(11):2022-2023. Retrieved June 12, 2019 from link.