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Test 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

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

Day(s) Performed

Tuesday

Report Available

3 to 9 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
HSMWB Hepatosplenomegaly Panel, B 92744-2

 

Result ID Test Result Name Result LOINC Value
601534 Interpretation (HSMWB) 59462-2
601528 Cholestane-3beta,5alpha,6beta-triol 92756-6
601529 Lyso-sphingomyelin 92748-3
601530 Glucopsychosine 92751-7
601531 7a-hydroxy-4-cholesten-3-one 92762-4
601532 7a,12a-dihydroxycholest-4-en-3-one 92759-0
601533 Globotriaosylsphingosine 92753-3
601535 Reviewed By 18771-6