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Order Code HSMWB Hepatosplenomegaly Panel, Blood


Ordering Guidance


This test should not be used for monitoring patients with confirmed diagnoses. If the testing requested is for monitoring purposes, see:

-CTXWB / Cerebrotendinous Xanthomatosis, Blood

-GPSYW / Glucopsychosine, Blood

-OXYWB / Oxysterols, Blood

 

This test's clinical sensitivity and specificity for the identification of Niemann-Pick type C (NPC) is 75% and 89%, respectively. If NPC is strongly suspected, the recommended test is HSMP / Hepatosplenomegaly Panel, Plasma.



Specimen Required


Collection Container/Tube:

Preferred: Lavender top (EDTA)

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

Specimen Volume: 1 mL

Collection Instructions: Send whole blood specimen in original vial. Do not aliquot.


Useful For

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly

 

This test is not useful for the identification of carriers.

 

This test should not be used as a monitoring for patients with confirmed diagnoses.

Method Name

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

Reporting Name

Hepatosplenomegaly Panel, B

Specimen Type

Whole blood

Specimen Minimum Volume

0.25 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 72 hours
  Ambient  48 hours

Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Reference Values

CHOLESTANE-3-BETA,5-ALPHA,6-BETA-TRIOL

Cutoff: ≤0.800 nmol/mL

 

LYSO-SPHINGOMYELIN

Cutoff: ≤0.100 nmol/mL

 

GLUCOPSYCHOSINE

Cutoff: ≤0.040 nmol/mL

 

7-ALPHA-HYDROXY-4-CHOLESTEN-3-ONE (7aC4)

Cutoff: ≤0.750 nmol/mL

 

7-ALPHA,12-ALPAH-DIHYDROXYCHOLEST-4-en-3-ONE (12aC4)

Cutoff: ≤0.250 nmol/mL

 

GLOBOTRIAOSYLSPHINGOSINE

Cutoff: ≤0.034 nmol/mL

Method Description

Whole blood is spotted on filter paper and dried overnight. A 3-mm dried blood spot is extracted with internal standard. The extract is subjected to liquid chromatography tandem mass spectrometry (LC-MS/MS) analysis. The MS/MS is operated in the multiple reaction monitoring positive mode to follow the precursor to product species transitions for each analyte and internal standard. The ratio of the extracted peak areas to internal standard determined by the LC-MS/MS is used to calculate the concentration of in the sample.(Unpublished Mayo method)

Day(s) Performed

Tuesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542