TPP1 and PPT1, Leukocytes (Neuronal Ceroid Lipofuscinoses)
Label Mnemonic: BATTENZ
Epic Lab Code: LAB2680
Downtime Form: A-1a Miscellaneous Request
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Whole Blood
Specimen Instructions:
Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Collection Medium:
Yellow top tube 8.5 mL (ACD solution A)
Minimum:
Draw blood in a yellow-top (ACD) tube.
Preferred Minimum: 6 mL of ACD whole blood
Absolute Minimum: 5 mL of ACD whole blood
Delivery Instructions:
Submit specimen to laboratory as soon as possible after collection. Specimen must arrive at reference laboratory within 144 hours of draw to be stabilized. Draw specimen Monday through Thursday ONLY, NO weekends or the day before a holiday. Specimen should be drawn and packaged as close to shipping time as possible.
Turn Around Time:
Varies
Reference Range:
TPP1: 85-326 nmol/hr/mg protein
PPT1: 20-93 nmol/hr/mg protein
Interpretive Data:
Tripeptidyl peptidase 1 (TPP1) and palmitoyl-protein thioesterase 1 (PPT1) enzyme activity below 5 nmol/hour/mg of protein are highly suggestive of late-infantile and infantile neuronal ceroid lipofuscinoses, respectively.
Comments:
Useful for evaluation of patients with clinical presentations suggestive of NCL and an aid in the differential diagnosis of infantile and late infantile NCL.

Cautions: This assay does not detect carrier status of NCL. Some variants with an age of onset occurring in older individuals have been noted.

Please print, complete and submit the Informed Consent for Genetic Testing from Mayo Medical Laboratories with the specimen and the A-1a Miscellaneous Request or Epic Req.
Methodology:
Fluorometric
CPT Code:
82657(x2)