Test Code NCLBS Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Blood Spot
Ordering Guidance
This blood test is an appropriate first step for individuals between 0 and 4 years of age who present with symptoms consistent with neuronal ceroid lipofuscinosis.
Necessary Information
1. Patient's age is required.
2. Reason for testing is required
Specimen Required
Submit only 1 of the following specimen types:
Preferred:
Specimen Type: Blood spot
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Blood Spot Collection Card
Acceptable: Whatman Protein Saver 903 Paper, PerkinElmer 226 filter paper, Munktell filter paper, or blood collected in tubes containing ACD or EDTA and dried on filter paper.
Specimen Volume: 2 Blood spots
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
2. At least 2 spots should be complete, ie, unpunched.
3. Let blood dry on filter paper at room temperature in a horizontal position for a minimum of 3 hours.
4. Do not expose specimen to heat or direct sunlight.
5. Do not stack wet specimens.
6. Keep specimen dry.
Specimen Stability Information: Refrigerated (preferred) 60 days/Ambient 7 days/Frozen 60 days
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)
Acceptable:
Specimen Type: Whole Blood
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 2 mL
Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Refrigerate (preferred) 7 days/Ambient 48 hours
Genetics Test Information
This test provides diagnostic testing for individuals with clinical signs and symptoms suspicious for neuronal ceroid lipofuscinosis 1 or 2 (CLN1 or CLN2). If an enzyme deficiency is detected by this screening test, additional biochemical or molecular testing is required to confirm a diagnosis.
Specimen Type
Whole bloodSpecimen Minimum Volume
Blood Spots: 1
Whole Blood: 0.5 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole blood | Varies |
Reject Due To
Blood spot specimen that shows serum rings or has multiple layers | Reject |
Insufficient specimen | Reject |
Unapproved filter papers | Reject |
Reference Values
Palmitoyl-protein thioesterase 1: >10.0 nmol/mL/h
Tripeptidyl peptidase 1: >27.0 nmol/mL/h
An interpretative report will be provided.
Day(s) Performed
Thursday
Report Available
8 to 15 daysSpecimen Retention Time
1 yearPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
82657