Neuronal Ceroid Lipofuscinoses Panel
- Neuronal ceroid lipofucinoses, also known as Batten disease, is a group of neurodegenerative disorders that is caused by problems with the brain’s ability to remove and recycle proteins (1). It is characterized by abnormal accumulation of certain fatty, granular substances within nerve cells of the brain as well as other tissues of the body resulting in progressive deterioration of certain areas of the brain and neurological impairment (2). Symptoms usually become apparent between 5 and 15 years of age and include slowly progressive vision abnormalities, cognitive decline, and behavioral changes (2). The disease is inherited as an autosomal recessive trait that affects approximately 3 in 100,00 births and is one of the most common neurodegenerative disorders affecting children (2). Almost all children affected carry a mutation that can be easily detected using genetic testing. Early intervention is important to ensure that children with the disease reach their potential, and genetic counseling may be of benefit for the affected individual and related family members.
- Genes (12): ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, GRN, KCTD7, MFSD8, PPT1, and TPP1
Test Code: 5081
• Molecular confirmation of a clinical diagnosis in symptomatic patients.
• Assessment for at-risk family members
Test Info Sheet: Neuronal Ceroid Lipofuscinoses Panel
Requisition: Contact ApolloGen Diagnostic Laboratory
- Turn-Around Time: 4 Weeks
Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
Other Specimens: See details here
- CPT Codes: 81406×1, 81479×11
Pricing: Please contact us at (949) 916-8886 or email@example.com
- Methodology: Next-Generation Sequencing (NGS)
Related Tests: None