Leukodystrophies associated with peroxisomal disorders panel [19 genes]

Among the pathological mechanisms underlying leukodystrophy and other inherited leukoencephalopathies, inborn errors of metabolism stand out, and they can be divided into peroxisomal lysosomal, mitochondrial and energy, and intermediate metabolism disorders.

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Leukodystrophies associated with peroxisomal disorders panel

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Turnaround time (TAT): 6 weeks

Ref. S-202008611

Leukodystrophies associated with peroxisomal disorders panel: View panel
  • ABCD1
  • ACOX1
  • HSD17B4
  • PEX1
  • PEX10
  • PEX11B
  • PEX12
  • PEX13
  • PEX14
  • PEX16
  • PEX19
  • PEX2
  • PEX26
  • PEX3
  • PEX5
  • PEX6
  • PEX7
  • PHYH
  • SCP2

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.

Related panels
Leukodystrophies due to inborn errors of metabolism comprehensive panel [73 genes]

Leukodystrophies and other hereditary leukoencephalopathies comprehensive panel [142 genes]

Phenotypes

  • ABCD1: Adrenoleukodystrophy
  • ACOX1: Peroxisomal acyl-CoA oxidase deficiency
  • HSD17B4: D-bifunctional protein deficiency
  • PEX7, PHYH: Refsum disease
  • SCP2: Leukoencephalopathy with dystonia and motor neuropathy (LKDMN)
  • PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26: Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS)