Test Catalog

Test Id : PGDBS

Plasmalogens, Blood Spot

Useful For
Suggests clinical disorders or settings where the test may be helpful

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
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Gas Chromatography/Mass Spectrometry (GC-MS)

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Plasmalogens, BS

Aliases
Lists additional common names for a test, as an aid in searching

Rhizomelic chondrodysplasia punctata

Fatty Acyl-CoA Reductase 1 deficiency

Peroxisomal biogenesis disorder

Zellweger syndrome

RCDP

RCP

FAR1 deficiency

PEX disorder

Neonatal ALD

Infantile refsum disease

Refsum disease

Specimen Type
Describes the specimen type validated for testing

Whole 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.

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.

ORDER QUESTIONS AND ANSWERS

Question ID Description Answers
BG724 Reason for Referral Follow up abnormal NBS for C26 LPC
MRI findings
Molecular findings
Skeletal abnormalities
Treatment monitoring
Not provided

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

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

 

Submit only 1 of the following specimens:

Preferred:

Specimen Type: Blood spot

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

Container/Tube:

Preferred: Blood spot collection card

Acceptable: PerkinElmer 226 (formerly Ahlstrom 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 of age is fingerstick. See Dried Blood Spot Collection Tutorial for how to collect blood spots via fingerstick: https://vimeo.com/508490782 .

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 in Special Instructions.

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

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

 

Acceptable

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: 2 mL

Collection Instructions: Send specimen in original tube.

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

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Blood Spots: 1

Whole Blood: 0.5 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Shows serum rings
Has multiple layers
Insufficient specimen
Unapproved filter papers
Reject

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Whole blood Varies

Useful For
Suggests clinical disorders or settings where the test may be helpful

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
Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Peroxisomes are organelles that carry out essential metabolic functions including beta-oxidation of very long-chain fatty acids (VLCFA), alpha-oxidation of phytanic acid, and biosynthesis of plasmalogen and bile acids. Peroxisomal disorders include disorders of peroxisomal biogenesis with defective assembly of the entire organelle, and disorders of peroxisome function with single peroxisomal enzyme/transporter defects where the organelle is intact, but a specific function is disrupted.

 

Biochemical abnormalities in peroxisomal biogenesis disorders can include accumulations of VLCFA, phytanic, and pristanic acid, pipecolic acid, bile acids, and reduced plasmalogens. The differential diagnosis of these disorders is based on recognition of clinical phenotypes combined with a series of biochemical tests to assess peroxisomal function and structure. These include measurements and ratios of VLCFA, phytanic acid, and its metabolite pristanic acid (POX / Fatty Acid Profile, Peroxisomal [C22-C26], Serum or POXP / Fatty Acid Profile, Peroxisomal [C22-C26], Plasma), pipecolic acid (PIPA / Pipecolic Acid, Serum or PIPU / Pipecolic Acid, Urine), bile acids (BAIPD / Bile Acids for Peroxisomal Disorders, Serum), and plasmalogens.

 

Peroxisomal biogenesis disorders (PBD) include the Zellweger syndrome spectrum disorders, which are clinically diverse and range in severity from neonatal lethal (Zellweger syndrome) to more variable clinical courses in neonatal adrenoleukodystrophy and infantile Refsum disease. Affected children typically have hypotonia, poor feeding, distinctive facial features, seizures, and liver dysfunction. Other features can include retinal dystrophy, hearing loss, developmental delays, and bleeding episodes.

 

Rhizomelic chondrodysplasia punctata (RCDP) is a malformation disorder characterized by rhizomelic shortening, chondrodysplasia punctata, cataracts, intellectual disability, and seizures, although it can have a milder phenotype with only cataracts and chondrodysplasia punctata. Currently, there are 5 clinical types of rhizomelic chondrodysplasia punctata: RCDP 1, 2, 3, 4 (also known as FAR1 deficiency) and 5. RCDP 1 is the classical form that presents in infancy with skeletal manifestations including rhizomelic shortening, cataracts, and severe to profound postnatal growth deficiency. Infants with RCDP 1 have developmental delay, and later, intellectually disability. The majority of children with RCDP 1 do not survive beyond the first decade of life. RCDP 1 is an autosomal recessive disorder caused by pathogenic variants in the PEX7 gene. RCDP 2 and 3 have clinical phenotypes similar to RCDP 1 and may be distinguished by plasmalogen deficiency. RCDP 2 and 3 are autosomal recessive conditions caused by pathogenic variants in GNPAT and AGPS genes, respectively. Individuals with RCDP 5 have a milder phenotype when compared to classic RCDP 1, with most individuals able to achieve self-feeding, independent ambulation, and development of limited language skills. RCDP5 results in less pronounced reduction in plasmalogens compared to RCDP 1. This newly recognized subtype of RCDP is an autosomal recessive disorder caused by pathogenic variants in the PEX5 gene.

 

The typical biochemical profile for RCDP shows reduced plasmalogens, elevated phytanic acid, and normal VLCFA. Confirmatory testing via molecular analysis for all types of RCDP is available (PDGP / Peroxisomal Disorder Gene Panel, Varies).

 

Fatty acyl-CoA reductase 1 (FAR1) deficiency, also known as RCDP type 4, is an autosomal recessive peroxisomal disorder caused by pathogenic variants in the FAR1 gene that result in early-onset epilepsy, microcephaly, cataracts, postnatal growth deficiency, and intellectual disability. Unlike RCDP, however, infants with FAR1 deficiency have no skeletal abnormalities. The biochemical profile for FAR1 deficiency includes reduced plasmalogens, normal to elevated phytanic acid, and normal VLCFA.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Hexadecanal-Dimethylacetal, C16:0 DMA

> =7.00 mcg/mL

 

Octadecanal-Dimethylacetal, C18:0 DMA

> =12.00 mcg/mL

 

9Z-Octadecenal-DiMe acetal C18:1DMA

> =2.00 mcg/mL

 

C16:0 DMA/C16:0

> =0.012

 

C18:0 DMA/C18:0

> =0.050

Interpretation
Provides information to assist in interpretation of the test results

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. When no significant abnormalities are detected, a simple descriptive interpretation is provided.

 

A profile of reduced plasmalogens and abnormal very long-chain fatty acids (VLCFA), as well as possible abnormalities in pipecolic acid and bile acids, can be consistent with a diagnosis of a peroxisomal biogenesis disorder (Zellweger syndrome spectrum).

 

A profile of reduced plasmalogens, elevated phytanic acid, and normal VLCFA is consistent with a diagnosis of rhizomelic chondrodysplasia punctata, such as RCDP type 1 or 2, FAR1 deficiency (RCDP type 4), or other types of RCDP.

 

Positive test results could be due to a genetic or nongenetic condition. Additional confirmatory testing would be required to differentiate between these causes.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

The results of testing performed in erythrocytes are invalid following a transfusion; therefore, collect specimen either prior to, or 6 weeks after, a blood transfusion.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Braverman NE, Moser AB, Steinberg SJ, Fallatah WF, Duker A, Bober M: Rhizomelic chondrodysplasia punctata type 1. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2001. Updated January 30, 2020. Accessed May 20, 2020. Available at www.ncbi.nlm.nih.gov/books/NBK1270/

2. Buchert R, Tawamie H, Smith C, et al. A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. Am J Hum Genet. 2014 Nov 6;95(5):602-610

3. Baroy T, Koster J, Stromme P, et al. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by a loss of the PEX5 long isoform. Hum Mol Genet. 2015;24(20):5845-5854

4. Braverman NE, Moser AB: Functions of plasmalogen lipids in health and disease. Biochim Biophys Acta. 2012;1822(9):1442-1452

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

This test measures C16:0, C18:1 and C18:0 plasmalogens in dried blood spots as a diagnostic marker for peroxisomal disorders as well as C16:0 and C18:0 fatty acid for normalization. Briefly, samples, standards, and quality control are mixed with internal standards, and derivatization and extraction are performed. Plasmalogens and fatty acids are then extracted from solution, transferred to a new tube, dried down under nitrogen, reconstituted, and analyzed by gas chromatography-mass spectrometry (GC-MS).(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Wednesday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 9 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Normal result: 3 months; Abnormal result: Indefinitely

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

82542

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
PGDBS Plasmalogens, BS In Process
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
609665 Hexadecanal-Dimethylacetal, C16 DMA In Process
609666 Octadecanal-Dimethylacetal, C18 DMA In Process
609667 9Z-Octadecenal-DiMe acetal C18:1DMA In Process
609670 C16 DMA/C16:0 In Process
609671 C18 DMA/C18:0 In Process
BG724 Reason for Referral 42349-1
609673 Reviewed By 18771-6
609674 Interpretation 59462-2

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports