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HelpTest ID 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 tube. Do not aliquot.
Forms
If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Secondary ID
65695Useful 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.
Specimen Type
Whole bloodSpecimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| 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-aplha-dihydroxycholest-4-en-3-one (12aC4)
Cutoff: ≤0.250 nmol/mL
Day(s) Performed
Tuesday, Thursday
Report Available
3 to 7 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
82542