Leukodystrophies with spinal cord involvement on MRI panel [5 genes]

One of the hallmark characteristics of a particular group of leukodystrophies is spinal cord involvement. Among these diseases, it is worth highlighting adult-onset autosomal dominant leukodystrophy (ADLD), caused by heterozygous duplications in the LMNB1 gene and clinically characterized by autonomic dysfunction, pyramidal signs, and cerebellar ataxia with onset between the 4th and 5th decades of life. In this case, abnormalities on MRI (hyperintensity on T2 or FLAIR imaging) are more prominent in frontoparietal white matter, cerebellar peduncles, corticospinal tract, and the corpus callosum.

Other disorders with spinal cord involvement are adrenoleukodystrophy, Alexander disease, hypomyelination with brainstem and spinal cord involvement and leg spasticity, and leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, caused by alterations in ABCD1, GFAP, DARS, and DARS2, respectively.

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 with spinal cord involvement on MRI panel

"*" indicates required fields

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

Turnaround time (TAT): 6 weeks

Ref. S-202008612

Leukodystrophies with spinal cord involvement on MRI panel: View panel
  • ABCD1
  • DARS
  • DARS2
  • GFAP
  • LMNB1

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 and other hereditary leukoencephalopathies comprehensive panel [142 genes]

Phenotypes

  • ABCD1:Adrenoleukodystrophy
  • GFAP: Alexander disease
  • DARS: Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)
  • LMNB1: Adult-onset autosomal dominant leukodystrophy (ADLD)
  • DARS2: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)