Neuronal Ceroid Lipofuscinoses
- CLN1
- CLN2
- CLN3
- CLN5
- CLN6
- CLN7
- CLN8
- CLN10
Blood; gDNA.
For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Room Temperature
For details about specimen requirements, please refer to: Specimen Type and Requirements
Special Instructions for Genome Diagnostics Samples
If sample shipment >48 hours, ship on ice.
Neuronal Ceroid Lipofuscinoses (NCLs, Batten disease) are the most common neurodegenerative disorders of childhood, with an incidence of about 1 in 25,000 births. Several subtypes of the disease are classified on the basis of age of onset, clinical features, biochemical analysis and detailed pathological examination of patient tissue with electron microscopy. NCLs are characterized by progressive motor and cognitive deterioration, seizures, early death, and often visual loss.
See related information sheet: Neuronal Ceroid Lipofuscinoses
Neuronal Ceroid Lipofuscinoses
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