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Plasmalogens, RBC
Clinical Genetic Test
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offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000613057.2
METABOLIC DISEASEINHERITED DISEASEOPHTHALMOLOGY ... View more
Last updated in GTR: 2024-05-07
View version history
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (3): Help
Peroxisome biogenesis disorder; Fatty acyl-CoA reductase 1 deficiency; Rhizomelic chondrodysplasia punctata
Analytes (1): Help
C16:0, C18:1 and C18:0 plasmalogens
Methods (1): Help
Biochemical Genetics - Analyte: Gas chromatography–mass spectrometry (GC-MS)
Target population: Help
Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
PGRBC
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
PGRBC
View other test codes
LOINC codes: Help
**LOINC codes notice
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
biochemicalgenetics@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/overview/609675#Specimen
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
Gas chromatography–mass spectrometry (GC-MS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Braverman NE, Moser AB. Functions of plasmalogen lipids in health and disease. Biochim Biophys Acta. 2012;1822(9):1442-52. doi:10.1016/j.bbadis.2012.05.008. Epub 2012 May 22. PMID: 22627108.

Target population: Help
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 … View more
View citations (4)
  • Braverman NE, Moser AB. Functions of plasmalogen lipids in health and disease. Biochim Biophys Acta. 2012;1822(9):1442-52. doi:10.1016/j.bbadis.2012.05.008. Epub 2012 May 22. PMID: 22627108.
  • Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R. A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. Am J Hum Genet. 2014;95(5):602-10. doi:10.1016/j.ajhg.2014.10.003. Epub 2014 Oct 30. PMID: 25439727.
  • Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet. 2015;24(20):5845-54. doi:10.1093/hmg/ddv305. Epub 2015 Jul 28. PMID: 26220973.
  • 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 25, 2023. Available at: www.ncbi.nlm.nih.gov/books/NBK1270/
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
N/A

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Research:
Is research allowed on the sample after clinical testing is complete? Help
N/A
Recommended fields not provided:
Clinical validity, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
This test measures C16:0, C18:1 and C18:0 plasmalogens in red blood cells as a diagnostic marker for peroxisomal disorders as well as C16:0 and C18:0 fatty acids for normalization. Briefly, samples, standards and quality control are mixed with internal standards and derivatization and extraction is performed. Plasmalogens and fatty acids … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Recovery was used to assess accuracy; mean recovery was 99%. Intra assay precision was performed at 3 levels: CV results ranged from 2.7% to 13.9% (N=10 each). Inter assay precision was performed at 3 levels: CV results ranged from 4.4% to 19.8% (N=5 each). The analytical measurement range is analyte … View more
Assay limitations: Help
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.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

Description of PT method: Help
Intra-laboratory alternative assessment of performance through quality control or patient blind testing

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
VUS:
Software used to interpret novel variations Help
N/A

Laboratory's policy on reporting novel variations Help
N/A
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Citations to support internal test validation method, Citations for Analytical validity, PT Provider, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.