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Test ID OXYBS Oxysterols, Blood Spot

Useful For

Investigation of possible diagnosis of Niemann-Pick disease types A, B, or C in blood spot specimens

 

Monitoring of individuals with Niemann-Pick disease type C

 

This test is not suitable for the identification of carriers.

Method Name

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

Reporting Name

Oxysterols, BS

Specimen Type

Whole blood


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, OXNP / Oxysterols, Plasma is recommended.



Specimen Required


Supplies:

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

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

Container/Tube:

Preferred: Blood Spot Collection (Filter Paper)

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 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 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.


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

Reference Values

CHOLESTANE-3-BETA,5-ALPHA,6-BETA-TRIOL

Cutoff: ≤0.800 nmol/mL

 

LYSO-SPHINGOMYELIN

Cutoff: ≤0.100 nmol/mL

Day(s) Performed

Tuesday

Report Available

2 to 9 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. 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

NY State Approved

Yes

Testing Algorithm

See Newborn Screen Follow-up for Niemann Pick Type A and B in Special Instructions.

 

For more information, see Newborn Screening Act Sheet Niemann-Pick A/B Disease: Decreased Acid Sphingomyelinase in Special Instructions.

Forms

If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.