very long chain fatty acids (cultured cells)
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000070507.3
- Last updated: 2021-09-15
- Annual Review past due read more
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Adrenoleukodystrophy
Offered by Genetics Laboratory, Peroxisomal Disorders Section
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.very long chain fatty acids (cultured cells) (VLCFA)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation
Click Indication tab for more information.
2mm punch sterile skin biopsy in sterile tissue culture media or two T-25 flasks of fibroblasts
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://www.genetics.kennedykrieger.org/forms
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Biochemical Genetics
- AAnalyte
- Metabolite levels
- Agilent 6890 capillary gas chromatograph
- EEnzyme assay
- Enzyme activity
- Beckman scintillation counter
Establish or confirm diagnosis
- 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
- 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
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.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.
- 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
HelpThe lab's suggested sequence of ordering tests based on clinical scenarios. It may include information on: reflex testing including each test component, and scenarios which prompt additional components of testing; whether lab communicates interim results or automatically proceeds to further analyses; and if any components are performed in another laboratory.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
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- Custom Prenatal Testing
- AAP, 2021Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.
- ACMG ACT, 2020American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated lysophosphatidylcholines, X-Linked Adrenoleukodystrophy (X-ALD), 2020
- EuroGentest, 2011Clinical utility gene card for: adrenoleukodystrophy.
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