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HelpTest Code Test Code LAB000 - Enter Specimen type, Source, and Test Name 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.
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
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, BSpecimen Type
Whole bloodSpecimen 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
Day(s) Performed
Tuesday
Report Available
3 to 9 daysPerforming 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 |