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Test Code OXYBS Oxysterols, Blood Spot

Reporting Name

Oxysterols, BS

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

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

 

Monitoring of individuals with NP disease type C

 

This test is not suitable for the identification of carriers.

Method Name

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


Advisory Information


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, or Postmortem Screening Card

Specimen Volume: 2 blood spots

Collection Instructions:

1. Let blood dry on filter paper at ambient temperature in a horizontal position for 3 or more 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.

6. Dried blood spots collected with EDTA, sodium heparin, lithium heparin, or ACD B-containing devices are acceptable.

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 Type

Whole blood

Specimen Minimum Volume

0.25 mL

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

Blood spot Shows serum rings Insufficient specimen

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 (COT) 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 lyso-sphingomyelin 509 (LSM 509) is suggestive of NPA, NPB or NPC disease.

Day(s) and Time(s) Performed

Tuesday; 8 a.m.

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

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.