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Test Code OXYBS Oxysterols, Blood Spot

Reporting Name

Oxysterols, BS

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using blood spot specimens

 

Monitoring of individuals with Niemann-Pick disease type C

 

This test is not useful for the identification of carriers.

Method Name

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


Ordering Guidance


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 OXNP / Oxysterols, Plasma.

 

This test is also available as a part of a panel; see HSMBS / Hepatosplenomegaly Panel, Blood Spot. If this test (OXYBS) is ordered with either GPSY / Glucopsychosine, Blood Spot or CTXBS / Cerebrotendinous Xanthomatosis, Blood Spot, the individual tests will be canceled and HSMBS ordered.



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 the 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

Interpretation

An elevation of cholestane-3-beta, 5-alpha, 6-beta-triol is highly suggestive of Niemann-Pick disease type C (NPC) disease.

 

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

 

An elevation of LSM 509 is suggestive of NPA, NPB or NPC 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
OXYBS Oxysterols, BS 92741-8

 

Result ID Test Result Name Result LOINC Value
36762 Interpretation (OXYBS) 59462-2
36760 Cholestane-3beta,5alpha,6beta-triol 92757-4
36761 Lyso-sphingomyelin 92749-1
36763 Reviewed By 18771-6

Testing Algorithm

If the patient has abnormal newborn screening results for Niemann- Pick disease, refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)

 

For more information seeNewborn Screen Follow-up for Acid Sphingomyelinase Deficiency