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Test of Biomarker of Gaucher Disease (Lyso-GL-1)

Omics test Model
Test Code LG
Test Summary Detecting Biomarker of Gaucher Disease (Lyso-GL-1) by tandem mass spectrometry.
Turn Around Time 7 days
Acceptable Sample Types Dried Blood Spots
NY Approved No
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

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Test Description

This test is used to monitor the levels of glucosylsphingosine (lyso-GL-1) for disease progression and/or treatment response in individuals with Gaucher disease.

Indications for Testing

This test may be appropriate for diagnosing and monitoring disease progression and/or treatment response in individuals with Gaucher disease.

Condition Description

Gaucher disease is associated with accumulation of harmful lipids throughout the body. There are 5 types of Gaucher disease. Type 1 Gaucher disease is the most common form, with a variable age of onset and symptom severity. Symptoms typically include hepatosplenomegaly, anemia, easy bruising, lung disease, and bone abnormalities. Type 2 and Type 3 Gaucher disease both affect the central nervous system and symptoms typically include the symptoms of Type 1 Gaucher disease plus abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease typically onsets in infancy and rapidly progresses, while Type 3 Gaucher disease typically progresses slower. The perinatal lethal form of Gaucher disease has symptom onset during pregnancy or in early infancy. Symptoms include hydrops fetalis, ichthyosis, skin abnormalities, hepatosplenomegaly, distinct facial features, and severe neurological problems. Death usually occurs a few days after birth. The cardiovascular form of Gaucher disease typically show symptoms of calcified heart valves, eye abnormalities, bone disease, and splenomegaly. The incidence of Gaucher disease is estimated to be ~ 1 in 50,000.

Test Methods and Limitations

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.

Detailed Sample Requirements

Dried Blood Spots
Test Details Page
Collection Container(s) Dried blood spot card

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

  • NBS: Please contact Revvity Omics to request the StepOne® kit.
  • Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
  • For pre-punched DBS: The required minimum is 6 punches
Sample 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.