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Chitotriosidase Enzyme Analysis

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Chitotriosidase Enzyme Analysis

Key Information

Lab:

Biochemical

TAT:

10 days

Price:

$200

CPT Code(s):

82657

Test Code:

BCHI

Order Form

Chitotriosidase Enzyme Analysis

This test measures chitotriosidase enzyme activity and can be used to monitor disease progression in patients with certain lysosomal storage disorders such as Gaucher disease and Acid sphingomyelinase deficiency.

Acid Sphingomyelinase, Gaucher disease

Technical Information

Chitotriosidase enzyme activity is measured by using a 4-methylumbelliferyl (4-MU) substrate.

Specimen Requirements

  • Plasma is the accepted sample type for this test. Collect a minimum of 3 mL whole blood in a sodium heparin tube.
  • Or blood can be centrifuged and a minimum of 1 mL plasma removed and sent for analysis.

Transport Instructions

  • Plasma should be frozen after collection and shipped frozen, preferably on dry ice.
  • Whole blood should be shipped at ambient temperature.

Associated Tests

Connect With Our Experts

Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.

Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

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