U.S. flag

An official website of the United States government

GTR Home > Tests > very long chain fatty acids (cultured cells)

Interpretation

Sample Negative Report

Help

Sample Negative Report

Sample Positive Report

Help

Sample Positive Report

Variants Of Unknown Significance (VUS) Policy And 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.
What software is used to interpret novel variations? Help
internal proprietary software
What is the 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.
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.

Practice guidelines

  • ACMG ACT, 2023
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated lysophosphatidylcholines, X-Linked Adrenoleukodystrophy (X-ALD), 2023
  • ACMG Algorithm, 2023
    ACMG Algorithm, X-ALD: Elevated lysophosphatidylcholines C24:0, C26:0, 2023
  • AAP, 2021
    Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.
  • EuroGentest, 2011
    Clinical utility gene card for: adrenoleukodystrophy.

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.