Neuronal Ceroid Lipofuscinosis Enzyme CLN1
Test Mnemonic
CLN1
CPT Codes
- 82657 - QTY (1)
LOINC ®
41069-6
Aliases
- Batten Disease
- Palmitoyl protein thioesterase
- PPT
Performing Laboratory
Seattle Children's Hospital
Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| N/A | Blood | See note | Ambient | Dried blood spots on filter paper (newborn screening card); 2 full circles |
Alternate Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 10 mL | Whole blood | ACD A or B (Yellow) | Ambient | Collect Monday - Thursday only. Specimen MUST arrive at Cleveland Clinic Laboratories before 3:00 p.m. on the day of collection. Do not spin. | |
| Two | Fibroblasts, cultured | T25 flask | Ambient | Two T-25 cultured fibroblast flasks. | |
| 10 mL | Whole blood | Sodium heparin (Green) | Ambient | Collect Monday - Thursday only. Specimen MUST arrive at Cleveland Clinic Laboratories before 3:00 p.m. on the day of collection. Do not spin. |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 6 mL | Whole blood |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | 24 hours |
| Refrigerated | 48 hours |
| Frozen | Unacceptable |
Days Performed
Varies (one day/week)
Turnaround Time
8 - 11 days
Methodology
| Name | Description |
|---|---|
| Fluorometric enzyme assay |
Reference Range
Special Info
For prenatal samples, maternal cell contamination testing is required. This must be ordered separately.
Clinical Info
Neuronal ceroid lipofuscinoses (NCL) comprise a group of recessively inherited neurodegenerative disorders involved in lysosomal protein catabolism. Clinically, they are characterized by vision loss, seizures, mental regression, behavioral changes, and movement disorders. All patients with classic infantile onset NCL, 8% of patients with late infantile NCL, and 21% of patients with juvenile NCL have a deficiency of palmitoyl protein thioesterase I (PPT).