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plasma very long chain fatty acids, phytanic and pristanic
Clinical Genetic Test
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offered by
Genetics Laboratory, Peroxisomal Disorders Section
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GTR Test Accession: Help GTR000318975.3
METABOLIC DISEASEINHERITED DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2015-02-09
View version history
Last annual review date for the lab: 2021-09-15 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Screening
Conditions (4): Help
Peroxisome biogenesis disorder; Adrenoleukodystrophy; Phytanic acid storage disease more...
Analytes (3): Help
Fatty acids.very long chain.C26:0; Phytanic acid; Pristanic acid
Methods (1): Help
Biochemical Genetics - Analyte: gas chromatography tandem mass spectrometry
Target population: Help
adrenoleukodystrophy, Zellweger spectrum disorders, D-bifunctional enzyme deficiency, acyl-CoA-oxidase deficiency, Refsum …
Clinical validity: Help
plasma very long chain fatty acids is a diagnostic test …
Clinical utility: Help
Establish or confirm diagnosis
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
Test Order Code: Help
1
View other test codes
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
fasting or preprandial plasma or serum; 0.25ml minimum volume, sent at room temperature, cold or frozen;
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 1
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Test strategy: Help
all positive tests are repeated for confirmation;
View citations (1)
  • Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Moser AB, et al. Ann Neurol. 1999;45(1):100-10. doi:10.1002/1531-8249(199901)45:1<100::aid-art16>3.0.co;2-u. PMID: 9894883.
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Lab contact for this test
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 3
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Analyte
gas chromatography tandem mass spectrometry
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
Clinical validity: Help
plasma very long chain fatty acids is a diagnostic test for disorders of peroxisomal fatty acid oxidation
View citations (1)
  • Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Moser AB, et al. Ann Neurol. 1999;45(1):100-10. doi:10.1002/1531-8249(199901)45:1<100::aid-art16>3.0.co;2-u. PMID: 9894883.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Moser HW, 2000. Disorders of very long chain fatty acids. In Nelson Textbook of Pediatrics. Behrman RE, Kliegman RM, Jenson JB (Eds). W. B. Saunders Company, Philadelphia, PA, 16th Edition, Chapter 83.2, pp. 381-387.

Target population: Help
adrenoleukodystrophy, Zellweger spectrum disorders, D-bifunctional enzyme deficiency, acyl-CoA-oxidase deficiency, Refsum disease, RCDP type1, peroxisomal racemase deficiency
View citations (1)
  • Moser HW, Smith KD, Moser AB, 1994. X-Linked Adrenoleukodystrophy. In The Metabolic and Molecular Basis of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D, (Eds). New York: McGraw-Hill Publishing Company, Seventh Edition, Volume II, Chapter 72, pp. 2325-2349.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
results are out of normal range; report to referring lab or physician and ask for followup sample

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. repeat test report will be faxed to referring lab and/or physician
Sample reports:
Sample Negative Report Help
Sample Negative Report

Sample Positive Report Help
Sample Positive Report

Sample VUS Report Help
Sample VUS Report
Recommended fields not provided:
Is research allowed on the sample after clinical testing is complete?
Technical Information
Test Procedure: Help
Method 1: Direct extraction of 0.1ml plasma and derivatization of the total lipid fatty acid esters with pentafluorobenzyl bromide and measurement by negative ion capillary gas chromatography/mass spectroscopy on a SP-2560 capillary column. Method 2: Direct extraction of 0.1ml plasma and derivitazation of plasma total lipid fatty acids with 1.0N … View more
View citations (2)
  • Quantitative determination of plasma c8-c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders. Lagerstedt SA, et al. Mol Genet Metab. 2001;73(1):38-45. doi:10.1006/mgme.2001.3170. PMID: 11350181.
  • Method 2: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 Platform:
Agilent capillary gas chromatograph 6890
Test Confirmation: Help
All positive results are confimed by retesting the same sample.
Test Comments: Help
The PDL laboratory monitors the plasma total lipid fatty acid content in order to detect elevated total lipid fatty acids that may result in false positives.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
more than 30,000 controls have been tested in the lab; more than 5000 patients with disorders of peroxisomal fatty acid oxidation have been identified to date using the plasma VLCFA assay
View citations (1)
  • Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Moser AB, et al. Ann Neurol. 1999;45(1):100-10. doi:10.1002/1531-8249(199901)45:1<100::aid-art16>3.0.co;2-u. PMID: 9894883.
Assay limitations: Help
non-fasting samples can give false positive test; hemolyzed samples can give false positive test
View citations (1)
  • Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Moser AB, et al. Ann Neurol. 1999;45(1):100-10. doi:10.1002/1531-8249(199901)45:1<100::aid-art16>3.0.co;2-u. PMID: 9894883.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS
VUS:
Software used to interpret novel variations Help
proprietary inhouse software

Laboratory's policy on reporting novel variations Help
call refering lab/physician and send report by fax; ask for repeat fasting sample
Recommended fields not provided:
Description of internal test validation method, Description of PT method, 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.