Genetic Testing and Counseling for Batten Disease

Could it be Batten disease? neurogene logo

Batten disease is a lysosomal storage disease (LSD) that is often misdiagnosed or undiagnosed due to the constellation of non-specific signs and symptoms and low awareness of the condition. The most common signs and symptoms include developmental delay or regression (cognitive, motor, and/or speech), vision loss, and seizures. Batten disease is progressive and therefore early diagnosis is critical. However, the diagnosis of Batten disease can be difficult to make. Genetic testing is the only way to definitively diagnose Batten disease.

young girl with Batten diseaseGenetic testing can shorten the time to diagnosis for patients with Batten disease.

InformedDNA, in partnership with Neurogene Inc., is offering no-charge genetic testing and genetic counseling for families with children who may have this condition to help confirm the diagnosis of Batten disease subtype CLN5. Neurogene is developing gene therapies for subtype CLN5. Physicians managing the care of patients with genetically confirmed CLN5 will be better able to advocate for early treatment and intervention when therapies become available.



Do you suspect patients with Batten disease could be in your clinic?

Batten disease, also known as neuronal ceroid lipofuscinoses (NCL), has many subtypes, caused by pathogenic variants in one of 13 genes. Signs and symptoms, severity, onset and progression vary across subtypes. Most children with Batten disease subtype CLN5 develop typically for the first 1.5 years of life before exhibiting cognitive and/or motor delays and regression, generally by age 8-9.

Does your patient qualify for no-charge genetic testing and genetic counseling?

Child is >2 years and <10 years of age;

Child is experiencing developmental delay or regression (both include cognitive, motor, and/or speech); and

Child wears glasses or has documented vision loss, or experiences color blindness or night blindness

Refer your patients to a genetic counselor for free genetic testing

*This program is available only to U.S. patients.*

Note: Patients meeting criteria will undergo comprehensive panel testing of 48 genes known to cause lysosomal storage diseases, many of which have symptoms overlapping with Batten disease subtype CLN5. All families will receive post-test genetic counseling, regardless of the test result. Referring providers will receive a written summary of the panel findings and a copy of the genetic test result.

The family may notice or report:

cognitive function Not being able to understand or follow simple directions
loss of vision Holding toys and books close to the face or sitting close to the TV. A child’s description of vision loss may be interpreted as hallucinations.
speech difficulties Hesitation or pausing, stuttering, getting stuck while speaking, loss of words
seizures Includes seizures that can appear as nodding off or zoning out
tremors Clumsiness, difficulty coordinating movements, unsteady gait
twitching Abnormal movements such as muscle twitches and jerks, rigid limbs, spasms
motor skills Regression in ability to sit or walk, pick up small items such as beads or marbles, stack toys such as blocks


Referral Instructions

  • Use our convenient online submission process to refer your patient for genetic testing and counseling for Batten disease.
  • If you are a parent or caregiver and you think your child may have Batten disease, please provide this website ( to the child’s healthcare provider to confirm eligibility and make a referral into the program.

Genetic Counseling

The genetic counselors at InformedDNA working on this program are highly trained in hereditary neurodegenerative conditions. As part of this program individuals will receive initial and post-test genetic counseling over the phone.

  • At the initial appointment, the genetic counselor will:
    • Collect the child’s medical history and a three generation family history
      • Due to autosomal recessive inheritance, there often is not a family history of similarly affected individuals with Batten disease
    • Discuss the genetics of Batten disease (neuronal ceroid lipofuscinoses (NCL))
    • Review the benefits and limitations of genetic testing
  • The genetic counselor will coordinate the test order and at-home sample collection
    • Results will be available in approximately three weeks from when the lab receives the sample
  • At the post-test appointment, the genetic counselor will:
    • Review the individual’s genetic test result and implications for the child and family members
    • Discuss available clinical trial opportunities and natural history studies for children receiving a genetic diagnosis
    • Provide a written summary of the discussion and a copy of the genetic test result to the referring healthcare provider and family

Visit to learn more about Batten disease, read stories about people living with CLN5, and learn about current CLN5 research.

This genetic counseling program is sponsored by Neurogene Inc. No identifying information of individuals participating in this genetic testing and counseling program will be shared with Neurogene.

References: 1. Kousi, M., Lehesjoki, A. E., & Mole, S. E. (2012). Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Human Mutation,33(1), 42-63. 2. Xin W. et al. CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. Neurology. 2010. 16;74(7):565-71 3. Simonati A. et al. Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5. Dev Med Child Neurol. 2017 Aug;59(8):815-821. 4. FDA (2019). Rare Diseases: Natural History Studies for Drug Development Guidance for Industry.