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Test of Lysosomal Storage Diseases

Test code: LD

Test Inquiry

Test code: LD

Test Inquiry

Test of Lysosomal Storage Diseases

Detecting the GBA, ASM, GAA, GALC, GLA and IDUA enzyme activities by tandem mass spectrometry in Dried Blood Spots.

View test information

Test Code	LD
Test Summary	Detecting the GBA, ASM, GAA, GALC, GLA and IDUA enzyme activities by tandem mass spectrometry in Dried Blood Spots.
Turn Around Time	4 - 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.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.

Test code: LD

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This test is not available in your region United States, please select your nearest laboratory to request more information.

Test Inquiry

Test information

Test description

Use MSMS to analyze 6 Lysosomal enzyme activity in Dried Blood Spots samples, including acid-β-glucocerebrosidase, acid-sphingomyelinase, acid-α-glucosidase, β-galactocerebrosidase, α-galactosidase A, α-L-iduronidase.

Indications for testing

Newborns.
Children and adults with suspected Lysosomal Storage Disorder.

Condition description

The lysosomal storage disorders (LSD) are a diverse group of inherited conditions caused by the defective function of specific lysosomal proteins. It is estimated that there are more than 50 different types. The disease course of these conditions is generally progressive, but the age of onset, nature and severity of symptoms can be variable between the disorders. Common symptoms of lysosomal disorders include hepatosplenomegaly, coarsening of facial features, short stature, corneal clouding, dysostosis multiplex and neurological regression. The combined prevalence of LSDs is estimated to be 1 in 7,000 births.

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
Collection	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.

How To Order

Step 1

Choose Your Test

Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.

Step 2

Collect Sample

Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.

Step 3

Send Samples

Send samples and all required forms back to Revvity for processing using pre-paid shipping label.

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Revvity Sites Globally

Test of Lysosomal Storage Diseases

Test of Lysosomal Storage Diseases

Test of Lysosomal Storage Diseases

About this test

Specifications

Test information

Test description

Indications for testing

Condition description

Test methods and limitations

Detailed sample requirements

Dried Blood Spots

How To Order

Choose Your Test

Collect Sample

Send Samples

How can we help you?

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Test of Lysosomal Storage Diseases

Test of Lysosomal Storage Diseases

Test of Lysosomal Storage Diseases

About this test

Specifications

Revvity Sites Globally

Test information

Test description

Indications for testing

Condition description

Test methods and limitations

Detailed sample requirements

Dried Blood Spots

How To Order

Choose Your Test

Collect Sample

Send Samples

1. Build Your Custom Panel

2. Complete and print the test requisition

3. Collect and Send Patient Sample

How can we help you?