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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 blood

Specimen 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 days

Specimen Retention Time

1 year

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657