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HelpTest ID PGRBC Plasmalogens, Blood
Additional Testing Requirements
If peroxisomal biogenesis disorders (Zellweger syndrome spectrum) are suspected, also order very long chain fatty acids (POX / Fatty Acid Profile, Peroxisomal [C22-C26], Serum; or POXP / Fatty Acid Profile, Peroxisomal [C22-C26], Plasma), bile acids (BAIPD / Bile Acids for Peroxisomal Disorders, Serum), and pipecolic acid (PIPU / Pipecolic Acid, Random, Urine).
If rhizomelic chondrodysplasia punctata (RCDP) is suspected, also order very long chain fatty acids (POX / Fatty Acid Profile, Peroxisomal [C22-C26], Serum), which includes phytanic and pristanic acid analysis.
Shipping Instructions
Whole blood should be sent refrigerated.
Necessary Information
1. Reason for testing is required
2. Date of blood transfusion, if performed.
3. Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.
Specimen Required
Patient Preparation: Specimen must be collected either prior to or 6 weeks after a blood transfusion.
Specimen Type: Whole Blood
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Green top (sodium or lithium heparin), yellow top (ACD solution A or B)
Specimen Volume: 5 mL
Collection Instructions: Send specimen in original tube. Do not aliquot.
Forms
1. Biochemical Genetics Patient Information (T602) (recommended, but not required)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Useful For
Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1) deficiency
Evaluating patients with abnormal newborn screen results for X-linked adrenoleukodystrophy who appear to have a different type of peroxisomal disorder, such as a Zellweger syndrome spectrum disorder.
Aiding in the assessment of peroxisomal function
Method Name
Gas Chromatography Mass Spectrometry (GC-MS)
Reporting Name
Plasmalogens, RBCSpecimen Type
Whole bloodSpecimen Minimum Volume
3 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Refrigerated (preferred) | 14 days |
| Ambient | 14 days |
Reference Values
Hexadecanal-Dimethylacetal, C16:0 DMA:
≥6.00 mcg/mL
Octadecanal-Dimethylacetal, C18:0 DMA:
≥9.00 mcg/mL
9Z-Octadecenal-DiMethylacetal C18:1 DMA:
≥2.00 mcg/mL
C16:0 DMA/C16:0:
≥0.018
C18:0 DMA/C18:0:
≥0.040
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. 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 |
|---|---|---|
| PGRBC | Plasmalogens, RBC | 74634-7 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 609676 | Hexadecanal-Dimethylacetal, C16 DMA | 104681-2 |
| 609677 | Octadecanal-Dimethylacetal, C18 DMA | 104680-4 |
| 609678 | 9Z-Octadecenal-DiMe acetal C18:1DMA | 104679-6 |
| 609681 | C16 DMA/C16:0 | 104677-0 |
| 609682 | C18 DMA/C18:0 | 104678-8 |
| BG726 | Reason for Referral | 42349-1 |
| 609684 | Reviewed By | 18771-6 |
| 609685 | Interpretation | 59462-2 |
Day(s) Performed
Tuesday