Skip to Main Content Go to Sitemap

Neuronal Ceroid Lipofuscinoses

Alternate test name
Batten Disease
Gene name / Alternate gene name
  • CLN1
  • CLN2
  • CLN3
  • CLN5
  • CLN6
  • CLN7
  • CLN8
  • CLN10
PPT1 (CLN1), TPP1 (CLN2), CTSD (CLN10)
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
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Sequencing; Targeted analysis of recurrent mutations
Expected turn-around time
Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood; gDNA.

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

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate); 
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and 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.

See related information sheet: Neuronal Ceroid Lipofuscinoses

Disease condition

Neuronal Ceroid Lipofuscinoses

Back to Top