Facebook Pixel Code
Section banner image
Paediatric Laboratory Medicine

Neuronal Ceroid Lipofuscinoses: Recurrent Mutations

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: Recurrent Mutations

Alternate Name/ Synonym

Batten Disease

Gene Name

  • CLN1
  • CLN2
  • CLN3

Alternate Gene Name

PPT1 (CLN1), TPP1 (CLN2)

Test Code

BATTN

Division

Molecular Genetics

Method

Targeted analysis of recurrent mutations

External Proficiency Testing

CAP

Turn Around Time

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

Protein

Palmitoyl-protein thioesterase 1, Tripepdidyl-peptidase 1, Bettanin

Disease/Condition

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)

Storage/Transportation

Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes

81479

Shipping and Contact Information

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

Interpretation

Interpretation is provided in report

Information Sheet: Neuronal Ceroid Lipofuscinoses