Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro®) Quantitative, Cerebrospinal Fluid

Casandra

Casandra Test Code AR84199Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2007497CPT Code 83864

Mucopolysaccharidosis Type 1, Total HS and NRE (Sensi-Pro®) Quantitative, Cerebrospinal Fluid

Also known as: MPSI CSF

Clinical Use

Order Test

Use

This test is designed for the quantitative analysis of heparan sulfate non-reducing end (NRE) and total heparan sulfate in cerebrospinal fluid (CSF) to aid in the diagnosis of Mucopolysaccharidosis Type 1 (MPSI). It utilizes a liquid chromatography-tandem mass spectrometry (LC-MS/MS) methodology to accurately measure these biomarkers, which are indicative of the lysosomal storage disorder when elevated. It is important for clinical purposes as it assists in confirming the diagnosis of MPSI, which can lead to significant neurological and somatic issues if untreated.

Special Instructions

This test is for research use and requires approval from a Medical Director to order. It is not approved for use in New York State, and requires a Non-Permitted Laboratory Request Form (NPL) for submission if located in New York. Prior to collection, ensure that the Mucopolysaccharides (MPS) Testing Patient History Form is submitted. Specimens must be collected and handled according to outlined procedures to ensure integrity and reliability of results.

Limitations

The performance characteristics of this test have been determined by ARUP Laboratories, but it has not been cleared or approved by the FDA. Therefore, results should be interpreted in the context of other clinical findings. The test is not stable at ambient or refrigerated temperatures and must be frozen to remain viable for up to one month, with avoidance of repeated freeze/thaw cycles. Testing should be conducted under CLIA-certified laboratory conditions.

Test Details