Whole Blood

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.

Draw blood in a yellow-top (ACD) tube.
Preferred Minimum: 6 mL of ACD whole blood
Absolute Minimum: 5 mL of ACD whole blood

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.

Varies

TPP1: 85-326 nmol/hr/mg protein
PPT1: 20-93 nmol/hr/mg protein

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.

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.

Fluorometric

82657(x2)