very long chain fatty acids (cultured cells)
GTR Test Accession: Help GTR000070507.3
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2015-02-09
Last annual review date for the lab: 2021-09-15 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Adrenoleukodystrophy; Acyl-CoA oxidase deficiency; Bifunctional peroxisomal enzyme deficiency; ...
Fatty acids.very long chain.C22:0; Fatty acids.very long chain.C26:0
Biochemical Genetics - Analyte: Metabolite levels; ...
X-linked adrenoleukodystrophy, peroxisomal biogenesis disorders (Zellweger spectrum disorders), peroxisomal D-Bifunctional …
Abnormal results are associated with a disorder of peroxisomal fatty …
Establish or confirm diagnosis; Guidance for management
Ordering Information
Offered by: Help
Genetics Laboratory, Peroxisomal Disorders Section
View lab's website
View lab's test page
Test short name: Help
VLCFA
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
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
2mm punch sterile skin biopsy in sterile tissue culture media or two T-25 flasks of fibroblasts
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Test strategy: Help
clinical history of X-linked adrenoleukodystrophy, or peroxisomal biogenesis defect, or D-bifunctional enzyme deficiency, or acyl-CoA-oxidase deficiency
View citations (1)
  • Moser HW, 2005. Lysosomal and peroxisomal diseases. In: Basic Neurochemistry: Molecular, Cellular, and Medical Aspects. Seigel GJ, Albers W, Brady ST, Price DL (Eds). Elsevier Academic Press, San Diego. Seventh Edition. Chapter 41, pp. 685-694.
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 2
Analyte Associated Condition
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Analyte
Metabolite levels
Agilent 6890 capillary gas chromatograph
Enzyme assay
Enzyme activity
Beckman scintillation counter
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical validity: Help
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 … View more
View citations (4)
  • X-linked adrenoleukodystrophy. Moser HW, et al. Nat Clin Pract Neurol. 2007;3(3):140-51. doi:10.1038/ncpneuro0421. PMID: 17342190.
  • Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids. McGuinness MC, et al. Biochem Biophys Res Commun. 1990;172(1):364-9. doi:10.1016/s0006-291x(05)80218-9. PMID: 2222480.
  • Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. Moser AB, et al. J Pediatr. 1995;127(1):13-22. doi:10.1016/s0022-3476(95)70250-4. PMID: 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.
Clinical utility: Help
Establish or confirm diagnosis
View citations (3)
  • X-linked adrenoleukodystrophy. Moser HW, et al. Nat Clin Pract Neurol. 2007;3(3):140-51. doi:10.1038/ncpneuro0421. PMID: 17342190.
  • Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids. McGuinness MC, et al. Biochem Biophys Res Commun. 1990;172(1):364-9. doi:10.1016/s0006-291x(05)80218-9. PMID: 2222480.
  • Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. Moser AB, et al. J Pediatr. 1995;127(1):13-22. doi:10.1016/s0022-3476(95)70250-4. PMID: 7541833.

Guidance for management
View citations (4)
  • Adrenoleukodystrophy: new approaches to a neurodegenerative disease. Moser HW, et al. JAMA. 2005;294(24):3131-4. doi:10.1001/jama.294.24.3131. PMID: 16380594.
  • X-linked adrenoleukodystrophy. Moser HW, et al. Nat Clin Pract Neurol. 2007;3(3):140-51. doi:10.1038/ncpneuro0421. PMID: 17342190.
  • Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids. McGuinness MC, et al. Biochem Biophys Res Commun. 1990;172(1):364-9. doi:10.1016/s0006-291x(05)80218-9. PMID: 2222480.
  • Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups. Moser AB, et al. J Pediatr. 1995;127(1):13-22. doi:10.1016/s0022-3476(95)70250-4. PMID: 7541833.

Target population: Help
X-linked adrenoleukodystrophy, peroxisomal biogenesis disorders (Zellweger spectrum disorders), peroxisomal D-Bifunctional enzyme deficiency, and peroxisomal acyl-CoA- oxidase deficiency.
View citations (1)
  • Moser HW, 2005. Lysosomal and peroxisomal diseases. In: Basic Neurochemistry: Molecular, Cellular, and Medical Aspects. Seigel GJ, Albers W, Brady ST, Price DL (Eds). Elsevier Academic Press, San Diego. Seventh Edition. Chapter 41, pp. 685-694.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
The values are intermediate and thus not in the normal range nor the abnormal range.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. If repeat analysis of the culture is done, then new results are reported to the referring laboratory and/or physician.
Research:
Is research allowed on the sample after clinical testing is complete? Help
If the specimen is collected with a signed copy of our current IRB that states that the cultures may be retained for possible research, then the cells are frozen and stored in liquid nitrogen and later given to qualified researchers who request the cells.
Sample reports:
Sample Negative Report Help
Sample Negative Report

Sample Positive Report Help
Sample Positive Report
Technical Information
Test Procedure: Help
Method 1: Harvest 1 T-25 confluent flask with trysin, wash the cells twice with PBS, and homogenize the pellet in 100ul distilled water. Take a 5ul aliquot for protein analysis. Extract the remaining cultured cell homogenate with 2:1 chloroform adding 1ug of C19:0 and C27:0 fatty acids as internal standards. … View more
View citations (2)
  • Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids. McGuinness MC, et al. Biochem Biophys Res Commun. 1990;172(1):364-9. doi:10.1016/s0006-291x(05)80218-9. PMID: 2222480.
  • Method 1: 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.
Test Confirmation: Help
Duplicate analysis using the same method.
Test Comments: Help
C26:0 and C22:0 fatty acid measurements and beta oxidation C16:0 and C24:0 enzyme assays are performed using cultured cells: skin fibroblasts, amniocytes, or chorionic villi.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
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.
View citations (3)
  • The prenatal diagnosis of X-linked adrenoleukodystrophy. Moser AB, et al. Prenat Diagn. 1999;19(1):46-8. doi:10.1002/(sici)1097-0223(199901)19:1<46::aid-pd501>3.0.co;2-e. PMID: 10073906.
  • The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland. Moser HW, et al. Pediatr Res. 1982;16(3):172-5. doi:10.1203/00006450-198203000-00002. PMID: 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 limitations: Help
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.
View citations (2)
  • Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. Boehm CD, et al. Mol Genet Metab. 1999;66(2):128-36. doi:10.1006/mgme.1998.2779. PMID: 10068516.
  • Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Bezman L, et al. Ann Neurol. 2001;49(4):512-7. PMID: 11310629.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
Metabolic Diseases Laboratory in Amsterdam

Description of PT method: Help
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.

Description of internal test validation method: Help
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 … View more
VUS:
Software used to interpret novel variations Help
internal proprietary software

Laboratory's policy on reporting novel variations Help
All results are reported by telephone and fax to the referring laboratory or physician. If the sample is from a female at risk for being a carrier of X-linked adrenoleukodystrophy, then recomend sequence of the ABCD1 gene.
Recommended fields not provided:
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.