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MEDIALAB

COURIER SERVICE INFORMATION

SPECIMEN DROP-OFF INFORMATION FOR PROVIDERS

MCE Electronic Courier Tracking Information 

HOW TO REQUEST LAB SUPPLIES

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Mayo Clinic Laboratories

Test Code OXNP Oxysterols, Plasma

Useful For

Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using plasma specimens

 

Monitoring of individuals with Niemann-Pick type C disease

 

This test is not useful for the identification of carriers.

Reporting Name

Oxysterols, P

Specimen Type

Plasma


Ordering Guidance


This test is also available as a part of a panel; see HSMP / Hepatosplenomegaly Panel, Plasma. If this test (OXNP) is ordered with either GPSYP / Glucopsychosine, Plasma or CTXP / Cerebrotendinous Xanthomatosis, Plasma, the individual tests will be canceled and HSMP ordered.



Specimen Required


Supplies: Sarstedt Aliquot Tube 5 mL (T914)

Collection Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Green top (sodium heparin or lithium heparin), yellow top (ACD B)

Submission Container/Tube: Plastic vial

Specimen Volume: 0.3 mL

Collection Instructions:

1. Centrifuge at 4° C.

2. Aliquot plasma into plastic vial. Do not disturb the buffy coat layer.

3. Send frozen.


Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time
Plasma Frozen 65 days

Reference Values

Cholestane-3-beta,5-alpha,6-beta-triol

Cutoff: ≤0.070 nmol/mL

 

7-Ketocholesterol

Cutoff: ≤0.100 nmol/mL

 

Lyso-sphingomyelin

Cutoff :≤ 0.100 nmol/mL

Interpretation

An elevation of cholestane-3-beta, 5-alpha, 6-beta-triol is highly suggestive of Niemann-Pick disease type C (NPC).

 

An elevation of lyso-sphingomyelin is highly suggestive of Niemann-Pick type A or B (NPA or NPB) disease.

 

Clinical Reference

1. Newborn Screening ACT Sheet [Decreased acid sphingomyelinase] Acid Sphingomyelinase Deficiency (ASMD). American College of Medical Genetics and Genomics; 2022. Revised May 2022. Accessed December 2, 2024. Available at www.acmg.net/PDFLibrary/Niemann-Pick.pdf

2. Wasserstein MP, Schuchman EH. Acid sphingomyelinase deficiency. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews. [Internet]. University of Washington, Seattle; 2006. Updated April 27, 2023. Accessed December 2, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1370/

3. Patterson M. Niemann-Pick disease type C. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated December 10, 2020. Accessed December 2, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1296/

4. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Int J Clin Pharmacol Ther. 2009;47(Suppl 1):S48-S57. doi:10.5414/cpp47048

5.. Hollack CEM, de Sonnaville ESV, Cassiman D et al. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. Mol Genet Metab. 2012;107(3):526-533

6. Wasserstein M, Dionisi-Vici C, Giugliani R, et al. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Mol Genet Metab. 2019;126(2):98-105

7. Geberhiwot T, Moro A, Dardis A, et al. International Niemann-Pick Disease Registry (INPDR): Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018;13(1):50

8. Bremova-Ertl T, Claassen J, Foltan T, et al. Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C. J Neurol. 2022;269(3):1651-1662. doi:10.1007/s00415-021-10717-0

9. Mengel E, Patterson MC, Da Riol RM, et al. Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment. J Inherit Metab Dis. 2021;44(6):1463-1480. doi:10.1002/jimd.12428

Day(s) Performed

Tuesday, Thursday

Report Available

3 to 7 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
OXNP Oxysterols, P 92740-0

 

Result ID Test Result Name Result LOINC Value
36433 Interpretation (OXNP) 59462-2
36430 Cholestane-3beta,5alpha,6beta-triol 92755-8
36431 7-Ketocholesterol 92764-0
36432 Lyso-sphingomyelin 92747-5
36434 Reviewed By 18771-6

Method Name

Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)

Testing Algorithm

For more information see Newborn Screen Follow-up for Acid Sphingomyelinase Deficiency

 

If the patient has abnormal newborn screening results for Niemann- Pick disease, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)