Request a No-Cost ASAH1 Genetic Test Kit
Aceragen is partnering with PerkinElmer Genomics laboratory to provide no-cost genetic testing of the ASAH1 gene. Variants in the ASAH1 gene cause acid ceramidase deficiency presenting as Farber disease or SMA-PME (spinal muscular atrophy with progressive myoclonic epilepsy). Genetic test kits (dried blood spot or saliva) must be ordered by a healthcare provider. Kits can be shipped to the healthcare provider or to the patient at the provider’s request.