Leukodystrophies associated with energy and mitochondrial metabolism disorders panel [16 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 energy and mitochondrial metabolism disorders panel

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Turnaround time (TAT): 6 weeks

Ref. S-202008608

Leukodystrophies associated with energy and mitochondrial metabolism disorders panel: View panel
  • AIFM1
  • APOPT1
  • DARS2
  • EARS2
  • IBA57
  • ISCA2
  • LYRM7
  • MARS2
  • NDUFS1
  • NDUFV1
  • PC
  • POLG
  • PYCR2
  • RARS2
  • SLC25A12
  • TYMP

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

  • MARS2: Autosomal recessive spastic ataxia with leukoencephalopathy
  • APOPT1: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral
    neuropathy
  • PC: Pyruvate carboxylase deficiency
  • AIFM1: X-linked hypomyelination with spondylometaphyseal dysplasia
  • RARS2:Pontocerebellar hypoplasia
  • PYCR2: Hypomyelinating leukodystrophy-10 (HDL10)
  • NDUFS1: Progressive cavitating leukoencephalopathy
  • DARS2: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
    (LBSL)
  • EARS2: Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
  • IBA57: Progressive cavitating leukoencephalopathy
  • ISCA2: Multiple mitochondrial dysfunctions syndrome type 4
  • POLG, TYMP: Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE)
  • NDUFV1:Leigh syndrome with leukodystrophy