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.

Request study Informed consent
Steps to follow
Steps to follow

How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

Please pack the sample in a way to prevent leakage

4. Send the sample & the request

Please schedule the delivery for Mon–Thur: 8am – 5pm

5. Result: the report

Via: Client Site HIC / Client Site Imegen / Certified email

Ask for information
Solicita información de

Leukodystrophies associated with energy and mitochondrial metabolism disorders panel

"*" indicates required fields

Consentimiento*
This field is for validation purposes and should be left unchanged.

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