Adrenoleukodystrophy and disorders of peroxisomal biogenesis with elevated plasma VLCFAs [20 genes]

X-linked adrenoleukodystrophy is a rare disease that affects the central or peripheral nervous system and the adrenal cortex. Brain involvement leads to progressive behavioral, cognitive and neurological deficits, which appear progressively from childhood (between 4 and 8 years) to adulthood. The symptoms caused by the involvement of the peripheral nervous system consist of weakness in the legs, spasticity, clumsy gait, pain, and intestinal and bladder dysfunction. The onset of these symptoms is usually between the ages of 20 and 30. The onset of primary adrenocortical insufficiency ranges from age two to adulthood (most commonly age 7.5 years).

X-linked adrenoleukodystrophy: 1/17,000 (ORPHA:43)

Recommended service when an elevation of very long chain fatty acids is detected in a blood test.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to early treatment of the disease.

Service indicated when, having requested a determination of very long chain fatty acids, an abnormal elevation is found.

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Adrenoleukodystrophy and disorders of peroxisomal biogenesis with elevated plasma VLCFAs

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202314040

Adrenoleukodystrophy and disorders of peroxisomal biogenesis with elevated plasma VLCFAs: View panel

Virtual panel based on whole exome sequencing, aimed at the analysis of X-linked adrenoleukodystrophy, as well as those associated with differential diagnosis entities.

  • ABCD1
  • ACBD5
  • ACOX1
  • DNM1L
  • HSD17B4
  • PEX1
  • PEX10
  • PEX11B
  • PEX12
  • PEX13
  • PEX14
  • PEX16
  • PEX19
  • PEX2
  • PEX3
  • PEX5
  • PEX6
  • PEX7
  • SCP2
  • PEX26

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

  • X-linked adrenoleukodystrophy
  • Disorders of peroxisomal biogenesis

References

  1. Raymond GV, Moser AB, Fatemi A. X-Linked Adrenoleukodystrophy. 1999 Mar 26 [Updated 2023 Apr 6]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1315/.