Ordering Recommendation

Initial test to screen for inborn errors of plasmalogen biosynthesis, including Zellweger spectrum disorders (ZSD) and rhizomelic chondrodysplasia punctata (RCDP).

New York DOH Approval Status

This test is not New York state approved.

Specimen Required

Patient Preparation
Collect

Green (sodium heparin or lithium heparin), lavender (K2EDTA), or yellow (ACD solution A)

Specimen Preparation

DO NOT FREEZE. Transport 6 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Gross hemolysis, frozen whole blood

Remarks

Patient age is required on the test request form. Include information regarding treatment, family history, and tentative diagnosis

Stability

Ambient: 3 days; Refrigerated: 7 days; Frozen: Unacceptable

Methodology

Quantitative Liquid Chromatography-Tandem Mass Spectrometry

Performed

Mon

Reported

4-12 days

Reference Interval

Test Number
Components
Reference Interval
  16:0(plasm)-PE Total
Age Reference Intervals
0-3 months 89.09-165.13 nmol/mL
4 months-18 years 104.89-205.55 nmol/mL
Greater than 18 years 89.67-189.15 nmol/mL

  18:0(plasm)-PE Total
Age Reference Intervals
0-2 months 124.85-251.80 nmol/mL
Greater than 2 months 170.31-282.19 nmol/mL

  18:1(plasm)-PE Total
Age Reference Intervals
0-2 months 45.38-111.35 nmol/mL
3 months-2 years 51.22-165.89 nmol/mL
Greater than 2 years 50.70-97.43 nmol/mL

  Total Plasmalogen PE (RBC)
Age Reference Intervals
0-2 months 275.36-484.68 nmol/mL
Greater than 2 months 338.70-575.65 nmol/mL

Interpretive Data

  This test measures eighteen individual phosphoethanolamine plasmalogen species by LC-MS/MS. Total values calculated by adding each of the six 16:0, 18:0 or 18:1 species and total plasmalogens, obtained by adding all 18 species, are reported.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

82542

Components

Component Test Code* Component Chart Name LOINC
3020012 Plasmalogen PE (RBC) Interpretation 59462-2
3020019 16:0(plasm)-PE Total 104681-2
3020039 18:0(plasm)-PE Total 104680-4
3020047 18:1(plasm)-PE Total 104679-6
3020049 Total Plasmalogen PE (RBC) 26717-9
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

Plasmalogens (Red Blood Cells)