| Test Code | B2041 | |
| Test Summary | This test evaluates the activity of 7 enzymes associated with lysosomal storage disorders. |
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| Turn-Around-Time (TAT)* | 3 days | |
| Acceptable Sample Types | Dried Blood Spots |
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| Acceptable Billing Types |
Self (patient) Payment Institutional Billing
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This test evaluates the activity of 7 enzymes associated with the following lysosomal storage diseases: MPS II (Hunter syndrome), MSP IIIB (Sanfilippo syndrome), MPS IVA (Marquio A syndrome), MSP IVB (Marquio A syndrome B), MPS VI (Maroteaux-Lamy syndrome), MPS VII (Sly syndrome) and CLN2 (Neurnal Ceroid Lipofuscinoses syndrome).
This enzyme panel may be appropriate for individuals with a clinical suspicion of lysosomal storage disorders and/or individuals with a family history of lysosomal storage disorders.
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.
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 spot card
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.