Genetic Testing
ALSPAware is a program sponsored by Vigil Neuroscience, Inc. (“Vigil”) that provides no-cost genetic testing and counseling services for individuals with a family history of or who are otherwise suspected of having ALSP. By increasing access to genetic testing and counseling for both individuals and healthcare providers, ALSPAware has the potential to reduce initial misdiagnosis of this disease while providing appropriate disease management services for those living with ALSP.
A single-gene confirmatory test is available to individuals with a family history of ALSP, and a custom gene panel is available for participating physicians to order on behalf of their patients to streamline the diagnostic process. With support from Vigil, ALSPAware is providing no-cost genetic testing and counseling through InformedDNA®, the largest independent provider of genetic counseling services, and PreventionGenetics, an Exact Sciences Company running an accredited laboratory that delivers high-quality genetic testing.
Definitive diagnosis of ALSP may only be confirmed by genetic testing for a mutation of the CSF1R gene. Genetic testing is key to ALSP diagnosis, since ALSP symptoms can be similar to those of other diseases, such as Parkinson’s disease, multiple sclerosis, or dementia. With the genetic cause of ALSP now known, it is reasonable to refer individuals at risk of or suspected to have ALSP for definitive genetic testing.
