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Test Code B0027
Test Summary

This test detects tripeptidyl peptidase 1 activity.

Turn-Around-Time (TAT)* 3  days
Acceptable Sample Types
Dried Blood Spots
Whole Blood (EDTA)
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.

This test detects tripeptidyl peptidase 1 enzyme activity that has been associated CLN2 disease.

This test may be appropriate for individuals with a clinical suspicion of CLN2 and/or individuals with a family history of this condition.

CLN2 disease is part of a group of disorders called neuronal ceroid lipofuscinoses (NCLs). CLN2 disease is characterized by impaired motor and mental development which usually present in early childhood. Symptoms include, but are not limited to, epilepsy, ataxia, and vision impairment. It is a progressive disease and affected children can lose previously acquired skills. They often need the help of a wheelchair to get around and do not survive past their teens. There are milder cases where symptoms develop in later childhood. In these cases, affected individuals can list until adulthood. CLN2 disease is estimated to affect 9 in 100,000 births in the Newfoundland province of Canada. The incidence outside this population is unknown.

Tandem mass spectrometry analysis can be coupled with liquid chromatography, a technique referred to as LC-MS/MS. In this methodology, chromatography is used to separate analytes of interest prior to measurement by the mass spectrometer. This separation reduces interference from matrix components and can also allow for the measurement of analytes that have the same mass (isobaric species), thereby improving analytical specificity compared to MS/MS.

Dried Blood Spots
Collection Container(s):

Dried blood spot card

Collection:

Follow kit instructions. Briefly, allow blood to saturate card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.

  • NBS: Please contact PKIG to request the StepOne® kit.
  • Gene Sequencing: Please contact PKIG to request the DBS collection kit.
  • For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
Condition: Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping: Follow kit instructions. Double bag and ship overnight at ambient temperature.
Whole Blood (EDTA)
Collection Container(s):

EDTA (purple top)

Collection:

Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation.

Condition: Store at ambient temperature. Do not refrigerate or freeze.
Shipping: Ship overnight at ambient temperature ensuring receipt within 5-days of collection.
SPECIAL INSTRUCTIONS
Clotted or hemolyzed samples are not accepted.