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C26:0 Lyso-phosphatidylcholine
Clinical Genetic Test
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offered by
Genetics Laboratory, Peroxisomal Disorders Section
View lab's test page
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GTR Test Accession: Help GTR000500811.3
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2023-06-22
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
Acyl-CoA oxidase deficiency; Adrenoleukodystrophy; Bifunctional peroxisomal enzyme deficiency more...
Analytes (1): Help
C26:0-lysophosphatidylcholine
Methods (1): Help
Biochemical Genetics - Analyte: Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Target population: Help
newborn screening, individuals with clinical symptoms of X-linked adrenoleukopdystrophy, families …
Clinical validity: Help
Positive range was determined by analysis of samples from males …
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
26:0 LPC
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
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
submit selected test on requisition form that may be printed from our website
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
newborn screening
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
No
Test strategy: Help
Screening
View citations (1)
  • Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF, Macaya D, Turgeon CT, Tortorelli S, Raymond GV. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab. 2009;97(3):212-20. doi:10.1016/j.ymgme.2009.03.010. Epub 2009 Apr 01. PMID: 19423374.
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test Order Code, Lab contact for this test
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Analyte
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
AB Sciex API3000 tandem mass spectrometer with Schimadzu FPLC
Clinical Information
Test purpose: Help
Diagnosis; Screening
Clinical validity: Help
Positive range was determined by analysis of samples from males with adrenoleukodystrophy. Negative range was determined by analysis of 128 samples from individuals with normal plasma very ong chain fatty acids.
View citations (1)
  • Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF, Macaya D, Turgeon CT, Tortorelli S, Raymond GV. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab. 2009;97(3):212-20. doi:10.1016/j.ymgme.2009.03.010. Epub 2009 Apr 01. PMID: 19423374.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF, Macaya D, Turgeon CT, Tortorelli S, Raymond GV. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab. 2009;97(3):212-20. doi:10.1016/j.ymgme.2009.03.010. Epub 2009 Apr 01. PMID: 19423374.

Target population: Help
newborn screening, individuals with clinical symptoms of X-linked adrenoleukopdystrophy, families with X-linked adrenoleukodystrophy, Zellweger spectrum disorders, and other disorders of peroxisomal fatty acid oxidation
View citations (1)
  • Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF, Macaya D, Turgeon CT, Tortorelli S, Raymond GV. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab. 2009;97(3):212-20. doi:10.1016/j.ymgme.2009.03.010. Epub 2009 Apr 01. PMID: 19423374.
Sample reports:
Sample Negative Report Help
Sample Negative Report

Sample Positive Report Help
Sample Positive Report
Recommended fields not provided:
What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?
Technical Information
Test Procedure: Help
extraction of DBS or plasma with methanol containing 4-D-26:0 lyso-PC internal standard; LCMS Positive ions, with MRM transitions, m/z 636>104 and m/z 640>104 were monitored and only the peak of m/z 636>104 having the same retention time as the internal standard, m/z 640>104 was used to calculate the amount of … View more
View citations (1)
  • Sandlers Y, Moser AB, Hubbard WC, Kratz LE, Jones RO, Raymond GV. Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy. Mol Genet Metab. 2012;105(3):416-20. doi:10.1016/j.ymgme.2011.11.195. Epub 2011 Dec 02. PMID: 22197596.
Test Platform:
None/not applicable
Test Confirmation: Help
suggest follow up by analysis of plasma very long chain fatty acids and molecular analysis
Test Comments: Help
test also identifies other diseases of peroxisomal fatty acid oxidation such as X-linked adrenoleukodystrophy, the Zellweger spectrum disorders, D-Bifunctional enyzme deficiency and acyl-CoA oxidase deficiency
Availability: Help
Tests performed
Entire test performed in-house

Test performance comments
dried blood spots are sent from an outside laboratory
Analytical Validity: Help
1500 apparently normal newborn dried blood spots(DBS) and 16 known positive newborn (DBS) were analyzed; 128 whole venous blood DBS from individuals with normal plasma very long chain fatty acids, 40 from known males with X-linked adrenoelukodsytrophy, 37 mutation confirmed X-linked heterozygotes, and 36 from Zellweger spectrum disorders were analyzed.
View citations (2)
  • Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF, Macaya D, Turgeon CT, Tortorelli S, Raymond GV. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab. 2009;97(3):212-20. doi:10.1016/j.ymgme.2009.03.010. Epub 2009 Apr 01. PMID: 19423374.
  • Sandlers Y, Moser AB, Hubbard WC, Kratz LE, Jones RO, Raymond GV. Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy. Mol Genet Metab. 2012;105(3):416-20. doi:10.1016/j.ymgme.2011.11.195. Epub 2011 Dec 02. PMID: 22197596.
Assay limitations: Help
dried blood spots of less than 1/16"; reportable range is greater than 0.05pmoles C26:0 Lyso-PC, or less than 25 pmoles C26:0 lyso-PC; incomplete column resolution of isobaric contaminants
View citations (1)
  • Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF, Macaya D, Turgeon CT, Tortorelli S, Raymond GV. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab. 2009;97(3):212-20. doi:10.1016/j.ymgme.2009.03.010. Epub 2009 Apr 01. PMID: 19423374.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
Centers for Disease Control and Prevention Newborn Screening Quality Assurance Program, CDC DLS
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.