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)

Protein

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

Canada

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: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Neuronal Ceroid Lipofuscinoses - requisition

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