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Test Code HSMBS Hepatosplenomegaly Panel, Blood Spot

Reporting Name

Hepatosplenomegaly Panel, BS

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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)


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

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

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

4. Do not stack wet specimens.

5. 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).


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

 

GLOBOTRIAOSYLSPHINGOSINE

Cutoff: ≤0.034 nmol/mL

Interpretation

An elevation of 7-alpha-hydroxy-4-cholesten-3-one (7aC4) and 7-alpha,12-alpha-dihydroxycholest-4-en-3-one (12aC4) is strongly suggestive of cerebrotendinous xanthomatosis.

 

An elevation of lyso-sphingomyelin (LSM) and LSM 509 is highly suggestive of Niemann-Pick type A or B disease.

 

An elevation of cholestane-3-beta, 5-alpha, 6-beta-triol and LSM 509 is highly suggestive of Niemann-Pick disease type C.

 

An elevation of glucopsychosine is indicative of Gaucher disease.

Day(s) Performed

Tuesday

Report Available

3 to 9 days

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
HSMBS Hepatosplenomegaly Panel, BS 92745-9

 

Result ID Test Result Name Result LOINC Value
601526 Interpretation (HSMBS) 59462-2
601520 Cholestane-3beta,5alpha,6beta-triol 92757-4
601521 Lyso-sphingomyelin 92749-1
601522 Glucopsychosine 92752-5
601523 7a-hydroxy-4-cholesten-3-one 92763-2
601524 7a,12a-dihydroxycholest-4-en-3-one 92760-8
601525 Globotriaosylsphingosine 92754-1
601527 Reviewed By 18771-6

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.