Facebook Pixel Code
Section banner image
Paediatric Laboratory Medicine

Neuronal Ceroid Lipofuscinoses Panel: Sequencing

Clinical Significance

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.

Test Name

Neuronal Ceroid Lipofuscinoses Panel: Sequencing

Alternate Name/ Synonym

Batten Disease

Gene Name

  • CLN1
  • CLN2
  • CLN3
  • CLN5
  • CLN6
  • CLN7
  • CLN8
  • CLN10

Alternate Gene Name

PPT1 (CLN1), TPP1 (CLN2), CTSD (CLN10)

Test Code



Molecular Genetics



External Proficiency Testing


Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)


Palmitoyl-protein thioesterase 1, Tripepdidyl-peptidase 1, Bettanin, Ceroid-lipofuscinosis neuronal protein 5, Ceroid-lipofuscinosis neuronal protein 6, Major facilitator superfamily domain-containing protein 8, Cathepsin D


Neuronal Ceroid Lipofuscinoses

Specimen Type

Blood; gDNA.

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Minimum Specimen Requirements

5-10 mL EDTA or ACD 0.5 mL EDTA (neonate); minimum 10 ug in 100 uL low TE (pH8.0)


Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes


Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Phone: 416-813-7200
Phone: 1-855-381-3212


Interpretation is provided in report

Information Sheet: Neuronal Ceroid Lipofuscinoses