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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, 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

Genetics Test Information

This test measures plasmalogens and plasmalogen to fatty acid ratios for the purpose of diagnosis of peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1) deficiency.

Highlights

This test analyzes plasmalogens and plasmalogen to fatty acid ratios. Reports include concentrations of C16:0, C18:0 and C18:1 plasmalogens and the ratio of the C16:0 and C18:0 plasmalogens to the respective fatty acid.

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-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

NY State Approved

Yes

Day(s) Performed

Tuesday

Report Available

3 to 9 days