Test Catalog

Test ID: HSMBS    
Hepatosplenomegaly Panel, Blood Spot

Specimen Type Describes the specimen type validated for testing

Whole blood

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, HSMP / Hepatosplenomegaly Panel, Plasma is recommended.

Specimen Required Defines the optimal specimen required to perform the test and the preferred volume to complete testing


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

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


Preferred: Blood Spot Collection card

Acceptable: Ahlstrom 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 in Special Instructions.

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

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

Special Instructions Library of PDFs including pertinent information and forms related to the test


1. Biochemical Genetics Patient Information (T602) in Special Instructions.

2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Specimen Minimum Volume Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

1 Blood spot

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

Shows serum rings
Insufficient specimen
Multiple applications

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen TypeTemperatureTimeSpecial Container
Whole bloodRefrigerated (preferred)10 daysFILTER PAPER
 Frozen 59 daysFILTER PAPER
 Ambient 10 daysFILTER PAPER