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Test 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, 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


Reason for testing is required

-Date of blood transfusion, if performed.

-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 ACD solution B)

Specimen Volume: 5 mL

Collection Instructions: Send specimen in original tube.


Forms

1. Biochemical Genetics Patient Information (T602) in Special Instructions (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, RBC

Specimen Type

Whole blood

Specimen Minimum Volume

3 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
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-DiMe acetal C18:1DMA:

≥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. This test 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 In Process

 

Result ID Test Result Name Result LOINC Value
609676 Hexadecanal-Dimethylacetal, C16 DMA In Process
609677 Octadecanal-Dimethylacetal, C18 DMA In Process
609678 9Z-Octadecenal-DiMe acetal C18:1DMA In Process
609681 C16 DMA/C16:0 In Process
609682 C18 DMA/C18:0 In Process
BG726 Reason for Referral 42349-1
609684 Reviewed By 18771-6
609685 Interpretation 59462-2

Day(s) Performed

Wednesday

Report Available

3 to 9 days