Morquio Syndrome (MPS IV) Monitoring, Urine (Sendout)

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General Information

Lab Name
Lab Code
1129
Description

Test Information: Quantitative total glycosaminoglycans can be used to monitor patients with any MPS disorder in combination with specific components chondroitin sulfate (uCS), dermatan sulfate (uDS), heparan sulfate (uHS), and keratan sulfate (uKS). Quantitative analysis of keratan and chondroitin sulfate (uKS, uCS) can be used as a monitoring tool for patients with Morquio syndrome (MPS IV).

Ordering Guidance: This test may be useful for patients with a strong family history of clinical symptoms related to MPS, elevated total GAG levels, or a previously confirmed diagnosis of any MPS type. For initial screening of patients suspected of mucopolysaccharidosis (MPS), refer to separate test: Mucopolysaccharides Quantitative, Urine (Sendout).

Ordering Requirements:

  • Approval from the Laboratory Medicine Resident (LMR) on-call is required to order this test. Contact the LMR via the paging operator at (206) 598-6190.
  • A completed Greenwood Genetic Center Biochemical Diagnostic Request Form must accompany all submissions. Leave the billing section blank to be completed by lab staff.
References
Synonyms
Morquio, MPS IV, Mucopolysaccharidosis
Components

Interpretation

Method

Quantitative analysis of total glycosaminoglycans (GAGs) is performed using a 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry at a wavelength of 656 nm. GAG measurements are reported relative to the creatinine concentration in the patient's urine. Quantification of individual glycosaminoglycans -chondroitin sulfate (uCS), dermatan sulfate (uDS), heparan sulfate (uHS), and keratan sulfate (uKS)- is performed using liquid chromatography-tandem mass spectrometry.

Reference Range

Ordering & Collection

Specimen Type
Urine
Collection

Random urine (at least 3 mL)

Forms & Requisitions
Approval Required
This test requires LMR approval.
Handling Instructions

Outside Laboratories:

  • Aliquot urine into a separate screw-cap vial and freeze at 20°C, preferably within several hours of collection. Transport on dry ice.
  • Submit a completed Greenwood Genetic Center Biochemical Diagnostic Request Form along with the DLMP requisition. Leave the billing section blank to be completed by lab staff.

Stability: Frozen (required): Approximately 1 month; Refrigerated: Unacceptable; Ambient: Unacceptable.

Quantity
Requested: 5 mL urine
Minimum: 3 mL urine

Processing

Receiving Instructions

Aliquot urine to a separate screw-cap vial and freeze at -20°C, preferably within several hours of collection.

Login: SEND1-;FREEZE URINE

  • RSNDT1: GGC
  • RSTYP1: URN
  • RTSRQ1: ;Morquio Syndrome (MPS IV) Monitoring, Urine

Sendouts:

  • Send samples on dry ice with a completed GGC requisition via FedEx Priority Overnight. Package close to the pickup time to avoid samples thawing in transit.
  • Ship samples Monday through Thursday only.

Stability: Frozen (required): Approximately 1 month; Refrigerated: Unacceptable; Ambient: Unacceptable.

Misc Sendout

Performance

Lab Department
Frequency
Turnaround Time: 10 days from sample receipt at Greenwood Genetic Center.
Available STAT?
No
Performing Location(s)
Sendout Greenwood Genetic Center Diagnostic Laboratories
888-442-4363

106 Gregor Mendel Circle
Greenwood, SC 29646

Biochemical Genetics Laboratory Phone: (800) 473-9411
Fax: (864) 941-8141

Billing & Coding

Billing Comments

CPTs: 83864 x 2