A diagnosis of an ASAH1-related condition, Farber disease or SMA-PME, may be confirmed with a genetic test. A blood or saliva sample can be analyzed to confirm ASAH1 variants.
If genetic testing is inconclusive, enzyme activity testing via blood test can also confirm a diagnosis of acid ceramidase deficiency. For additional information about enzyme activity testing, please contact Aceragen at patientinfo@aceragen.com. Both tests are performed in specialized laboratories and must be coordinated by a healthcare provider.
Health care providers can order no-cost genetic testing of the ASAH1 gene. The test is made available by Aceragen, who has partnered with PerkinElmer Genomics laboratory.
Healthcare providers can request genetic testing kits through Aceragen. PerkinElmer Genomics laboratory will provide the kits and ship them to the provider. The results will be returned to the physician by PerkinElmer. Aceragen will not receive a copy of the results or patient identifying information.
If you believe you or a family member is showing signs or symptoms of an ASAH1-related condition, work with a physician to have them order a genetic test and confirm a diagnosis. For questions about this process, reach out to patientinfo@aceragen.com.
ASAH1 genetic testing may be considered for individuals with the following1:
Obtaining a definitive genetic diagnosis is an important first step in seeking appropriate care, learning about potential research opportunities, and preparing for the future.
If you suspect Farber disease or another ASAH1-related condition, genetic testing can provide answers. A genetic test can confirm a Farber disease diagnosis and will show variants in the ASAH1 gene.
Additionally, it may be beneficial to speak with a genetic counselor.
While there are no treatments available for Farber disease, there are interventions that can help manage symptoms and lessen discomfort.
A diagnosis can help ensure that the appropriate specialists are included on the family’s health care team and inform their medical plan.
Confirming a diagnosis may help identify what clinical trials or research databases may be available.
Results are sent from PerkinElmer Genomics to the ordering physician within 21 days.
No result or patient identifying data is shared with Aceragen. Patients or their caregiver will be asked to sign an informed consent document from PerkinElmer at the time of sample collection. This form will outline their policies on confidentiality and sample and data retention. Please review this consent form in detail and direct any questions to PerkinElmer directly via email at: Genomics@perkinelmer.com or toll-free by telephone +1-866-354-2910.
References
1 Dyment DA, Bennett SA, Medin JA, Levade T. ASAH1-Related Disorders. GeneReviews®. Published 1993. Accessed October 7, 2022.
2 Bonafé L, Kariminejad A, Li J, et al. Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber’s Disease. Arthritis & Rheumatology. 2016;68(9):2323-2327. doi:10.1002/art.39659.
