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GTR Home > Tests > very long chain fatty acids (cultured cells)

Performance Characteristics



  • Entire test performed in-house

Analytical Validity


More than 50 control cells lines were analyzed. More than 50 cell lines from disorders of peroxisomal fatty acid oxidation were analyzed. The results were compiled and used to establish the reference ranges.


  • - PubMed ID: 10073906
  • - PubMed ID: 7063272
  • Moser HW, and Moser AB, 1991. Measurement of saturated very long chain fatty acids in plasma. In Techniques in Diagnostic Human Biochemical Genetics. Hommes FA (Ed). New York: Wiley-Liss. Chapter 12, pp. 177-191.

Assay Limitation(s)


Females at risk of X-linked adrenoleukopdystrophy can have equivocal results, and 20% false negative. Recommend sequence analysis of the ABCD1 gene for a more accurate diagnosis.

Internal Test Validation Method


A same normal control cell line and the same abnormal cell line are assayed with each set of diagnostic samples. The results of the normal control and abnormal cells are compared with previous values and results must be within 20% of the mean established for each cell line in order to accept the values obtained on the cells received for diagnosis.


Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
Method used for proficiency testingHelp
PT ProviderHelp
Metabolic Diseases Laboratory in Amsterdam
PT Description
Cells of known patients and controls were coded and exchanged. Analyses were done by similar methods in each laboratory. The results were reviewed and compared. The records of these exchanges are kept in the laboratory.

FDA Regulatory Clearances of the Test

FDA Category Designation
FDA exercises enforcement discretion

Practice guidelines

  • ACMG ACT, 2023
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated lysophosphatidylcholines, X-Linked Adrenoleukodystrophy (X-ALD), 2023
  • ACMG Algorithm, 2023
    ACMG Algorithm, X-ALD: Elevated lysophosphatidylcholines C24:0, C26:0, 2023
  • AAP, 2021
    Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.
  • EuroGentest, 2011
    Clinical utility gene card for: adrenoleukodystrophy.

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