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Test ID PGDBS Plasmalogens, Blood Spot


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.



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


Submit only 1 of the following specimens:

 

Preferred:

Patient Preparation: Specimen must be collected either prior to or 6 weeks after a blood transfusion.

Specimen Type: Blood spot

Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Blood spot collection card

Acceptable: Local newborn screening card, PerkinElmer 226 filter paper, Munktell filter paper, Whatman Protein Saver 903 paper, or blood collected in tubes containing ACD, EDTA, or heparin spotted and dried on filter paper

Specimen Volume: 2 Blood spots

Collection Instructions:

1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Specimen Stability Information: Ambient (preferred) 90 days/Refrigerated 90days/Frozen 90 days

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions.

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777).

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800).

 

Acceptable

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: 2 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Refrigerate (preferred) 14 days/Ambient 11 days


Forms

1. Biochemical Genetics Patient Information (T602)

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, BS

Specimen Type

Whole blood

Specimen Minimum Volume

Blood spot: 1
Whole blood: 0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Varies

Reference Values

Hexadecanal-Dimethylacetal, C16:0 DMA

≥7.00 mcg/mL

 

Octadecanal-Dimethylacetal, C18:0 DMA

≥12.00 mcg/mL

 

9Z-Octadecenal-Dimethylacetal C18:1DMA

≥2.00 mcg/mL

 

C16:0 DMA/C16:0

≥0.012

 

C18:0 DMA/C18:0

≥0.050

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
PGDBS Plasmalogens, BS 104687-9

 

Result ID Test Result Name Result LOINC Value
609665 Hexadecanal-Dimethylacetal, C16 DMA 104682-0
609666 Octadecanal-Dimethylacetal, C18 DMA 104683-8
609667 9Z-Octadecenal-DiMe acetal C18:1DMA 104684-6
609670 C16 DMA/C16:0 104685-3
609671 C18 DMA/C18:0 104686-1
BG724 Reason for Referral 42349-1
609673 Reviewed By 18771-6
609674 Interpretation 59462-2

Day(s) Performed

Tuesday

Report Available

3 to 9 days