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 CLN7 with their physician and a genetic counselor or other specialists who are familiar with the disease management of CLN7.
If you believe your child is showing signs or symptoms of CLN7, tests are available for a physician or other healthcare professional to order to confirm a diagnosis.
Many academic and commercial labs offer genetic testing. Testing for CLN7 may not be included in standard testing panels; however, upon request, a diagnostic genetic test including an Through this diagnostic test performed by a geneticist, the exome -- a sequence of all exons of protein coding genes in the human genome -- can be captured and analyzed with the intention of identifying a disease with a genetic component. for CLN7 can confirm a diagnosis. Your physician can help you navigate the process or refer you to a geneticist.
Neurogene has partnered with genetic testing company Invitae to offer a no-cost, 190+ gene Comprehensive Epilepsy Panel to any child under the age of 8 who has had an unprovoked seizure. For additional details:
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 Clinician's Perspective on Diagnosis:
“CLN7 and CLN5 are two very rare forms of
Batten disease is the common name for a broad class of rare, inherited disorders or diseases of the nervous system also known as neuronal ceroid lipofuscinoses, or NCLs. In these diseases, a defect in a specific gene triggers a cascade of problems that interferes with a cell’s ability to recycle certain molecules. The disease has several forms that share some of the same features and symptoms but vary in severity and age when symptoms first begin to appear. Each form is caused by a variant in a different gene. Although “Batten disease” originally referred specifically to the juvenile-onset form of NCL, the term Batten disease is increasingly used to describe all forms of NCL. The disease ultimately leads to shortened lifespan., both marked by regression of motor and language skills, as well as seizures, during childhood years. While signs and symptoms for both are similar to other types of Batten disease, these subtypes are not currently tested within a standard panel. If your child is experiencing motor and language regression, consider speaking to your healthcare provider about an expanded exome sequencing panel. With a positive diagnosis, children may be eligible to participate in research that could help the community better understand Batten disease.”
Elizabeth Berry-Kravis, M.D., Ph.D.,
Pediatric Neurologist and Professor
Rush University Medical Center