Gaucher Disease : Chitotriosidase Monitoring

Test Information

Biomarker analysis of chitotriosidase can be used to monitor disease progression for individuals with the Lysosomal Storage Disorder (LSD), Gaucher disease, including those receiving enzyme replacement therapy.

Turnaround Time

10 days

CPT Code(s)

82657

Cost

$200


Enzymes

Chitotriosidase

Clinical Information

Gaucher disease, a lysosomal storage disorder (LSD), can present with a wide spectrum of severity ranging from a perinatal lethal phenotype to asymptomatic. There are three primary types with two additional sub-types, all categorized by differences in the clinical presentation of the patient. Hepatosplenomegaly, pulmonary disease, and cytopenia are also common for most types of Gaucher disease.

Patients with Gaucher disease type 1 have varying degrees and types of bone disease as the primary feature, but do not have any central nervous system involvement. Gaucher disease types 2 and 3 present with primary neurologic disease. Type 2 and 3 are distinguished based on age of onset and disease progression. Patients with type 2 typically have an earlier onset before age 2, rapid disease progression, and early death. Type 3 is characterized by a slower disease course with patients living into adulthood. Neurologic findings for types 2 & 3 include bulbar signs, pyramidal signs, oculomotor apraxia, seizures, as well as dementia and ataxia in later disease stages. The perinatal lethal form may present as nonimmune hydrops fetalis or with pyramidal neurologic signs and ichthyosiform skin changes. The cardiovascular form is characterized by primarily by calcification of mitral and aortic values with other minor findings.

Methodology

4-methylumbelliferyl substrate

Specimen Requirements

Chitotriosidase enzyme activity is measured in plasma. Please send 5-7 ml of whole blood in a green top (sodium heparin) tube, or spin down a whole blood sample, pull off the plasma, and freeze.

Transport Instructions

Whole blood samples should be shipped at ambient temperature and must arrive at the laboratory within 24 hours of blood draw. If plasma has been separated and frozen, send frozen via overnight shipping, preferrably on dry ice.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Analytes and Biomarkers, Biochemical Testing, Enzyme Analysis
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