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GTR Home > Tests > C26:0 Lyso-phosphatidylcholine

Overview

Test name

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C26:0 Lyso-phosphatidylcholine (26:0 LPC)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Screening

Condition

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How to order

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submit selected test on requisition form that may be printed from our website
Order URL Help: http://www.genetics.kennedykrieger.org/

Specimen source

Dried blood spot (DBS) card
Peripheral (whole) blood
Plasma

Methodology

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Biochemical Genetics
AAnalyte
Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
  • AB Sciex API3000 tandem mass spectrometer with Schimadzu FPLC
  • None/not applicable

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. - PubMed ID: 19423374

Clinical validity

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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.

Citations
  • Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. - PubMed ID: 19423374

Testing strategy

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Screening 000 submit selected test on requisition form that may be printed from our website

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • newborn screening

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.