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Order Code HSMBS Hepatosplenomegaly Panel, Blood Spot


Ordering Guidance


This test should not be used for monitoring of patients with confirmed diagnoses. If a physician is requesting testing for monitoring purposes, see:

-CTXBS / Cerebrotendinous Xanthomatosis, Blood Spot

-GPSY / Glucopsychosine, Blood Spot

-OXYBS / Oxysterols, Blood Spot

 

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


Supplies:

-Card-Blood Spot Collection (Filter Paper) (T493)

-Card-Postmortem Screening (Filter Paper) (T525)

Container/Tube:

Preferred: Blood Spot Collection card (Filter Paper)

Acceptable: Whatman Protein Saver 903 filter paper, PerkinElmer 226 filter paper, Munktell filter paper, Postmortem Screening Card, or collected with EDTA, sodium heparin, lithium heparin, or ACD B-containing devices

Specimen Volume: 2 Blood spots

Collection Instructions:

1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.

2. Let blood completely dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

3. At least 1 spot should be complete (ie, unpunched).

4. Do not expose specimen to heat or direct sunlight.

5. Do not stack wet specimens.

6. Keep specimen dry

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions.

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777).

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800).


Forms

1. Biochemical Genetics Patient Information (T602)

2. 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, using dried blood spot specimens

 

This test is not useful for the identification of carriers.

 

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

Method Name

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

Reporting Name

Hepatosplenomegaly Panel, BS

Specimen Type

Whole blood

Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 10 days FILTER PAPER
  Frozen  59 days FILTER PAPER
  Ambient  10 days FILTER PAPER

Reject Due To

Shows serum rings
Insufficient specimen
Layering
Multiple applications		 Reject

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 (7a-C4)

Cutoff: ≤0.750 nmol/mL

 

7-Alpha,12-alpha-dihydroxycholest-4-en-3-one (7a12aC4)

Cutoff: ≤0.250 nmol/mL

Method Description

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