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

Overview

Test name

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very long chain fatty acids (cultured cells) (VLCFA)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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How to order

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2mm punch sterile skin biopsy in sterile tissue culture media or two T-25 flasks of fibroblasts
Order URL Help: http://www.genetics.kennedykrieger.org/forms

Specimen source

Amniocytes
Amniotic fluid
Cell culture
Chorionic villi
Fibroblasts

Methodology

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Biochemical Genetics
AAnalyte
Metabolite levels
  • Agilent 6890 capillary gas chromatograph
EEnzyme assay
Enzyme activity
  • Beckman scintillation counter

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • X-linked adrenoleukodystrophy. - PubMed ID: 17342190
  • Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids. - PubMed ID: 2222480
  • Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. - PubMed ID: 7541833

Guidance for management

Citations
  • Adrenoleukodystrophy: new approaches to a neurodegenerative disease. - PubMed ID: 16380594
  • X-linked adrenoleukodystrophy. - PubMed ID: 17342190
  • Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids. - PubMed ID: 2222480
  • Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. - PubMed ID: 7541833

Clinical validity

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Abnormal results are associated with a disorder of peroxisomal fatty acid oxidation. The PDL laboratory currently has data on more than 200 control cell lines, more than 50 cell lines from X-linked adrenoleukodystrophy males, mutation proven heterozygotes for ALD, peroxisomal biogenesis disorders, and the single enzyme defects of peroxisomal fatty acid oxidation, D-bifunctional and Acyl-CoA oxidase.

Citations
  • X-linked adrenoleukodystrophy. - PubMed ID: 17342190
  • Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids. - PubMed ID: 2222480
  • Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. - PubMed ID: 7541833
  • 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.

Testing strategy

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clinical history of X-linked adrenoleukodystrophy, or peroxisomal biogenesis defect, or D-bifunctional enzyme deficiency, or acyl-CoA-oxidase deficiency 000 2mm punch sterile skin biopsy in sterile tissue culture media or two T-25 flasks of fibroblasts

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Prenatal Testing

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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