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

How to order

How To Order

Laboratory's Test Page

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http://www.genetics.kennedykrieger.org/

How To Order

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2mm punch sterile skin biopsy in sterile tissue culture media or two T-25 flasks of fibroblasts
Order URL Help: http://www.genetics.kennedykrieger.org/forms

Informed Consent Required Help: No

Specimen Source

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  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Fibroblasts

Specimen requirements: http://www.genetics.kennedykrieger.org/forms

Test Codes

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Not provided

Test Orderable By

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  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse

Testing Strategy

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clinical history of X-linked adrenoleukodystrophy, or peroxisomal biogenesis defect, or D-bifunctional enzyme deficiency, or acyl-CoA-oxidase deficiency

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Prenatal Testing

Ordering Requirements

Genetic Counseling Required Pre-test Help
Yes
Genetic Counseling Required Post-test Help
Yes

Contact Policy

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  • Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.

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.