©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessLeukoencephalopathy with brain stem + spinal cord involvement + lactate elevation; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation comprising altogether 17 curated genes according to the clinical signs

ID
LP9987
Number of genes
17 Accredited laboratory test
Examined sequence length
4,9 kb (Core-/Core-canditate-Genes)
25,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CSF1R2919NM_005211.4AD
DARS21938NM_018122.5AR
AARS12927NM_001605.3AR
CLN31317NM_001042432.2AR
CLN51077NM_006493.4AR
CLN6936NM_017882.3AR
CLN8861NM_018941.4AR
CTSD1239NM_001909.5AR
CTSF1455NM_003793.4AR
DARS11506NM_001349.4AR
DNAJC5597NM_025219.3AD, AR
GRN1782NM_002087.4AD, AR
KCTD7870NM_153033.5AR
MFSD81557NM_152778.3AR
PPT1921NM_000310.4AR
RARS11983AR
TPP11692NM_000391.4AR

Informations about the disease

Synonyms
  • Alias: Mitochondrial Aspartyl-tRNA Synthetase Deficiency
  • Allelic: Aphasia, primary progressive (GRN)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
  • Allelic: Macular dystrophy with central cone involvement (MFSD8)
  • Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
  • Ceroid lipofuscinosis, neuronal, 1 (PPT1)
  • Ceroid lipofuscinosis, neuronal, 11 (GRN)
  • Ceroid lipofuscinosis, neuronal, 2 (TPP1)
  • Ceroid lipofuscinosis, neuronal, 3 (CLN3)
  • Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
  • Ceroid lipofuscinosis, neuronal, 8 (CLN8)
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset (CLN6)
  • Developmental + epileptic encephalopathy 29 (AARS1)
  • Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
  • Frontotemporal lobar degeneration with ubiquitin-positive inclusions (GRN)
  • Hypomyelination with brainstem , spinal cord involvement + leg spasticity (DARS1)
  • Leukodystrophy, hypomyelinating, 9 (RARS1)
  • Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
  • Spinocerebellar ataxia, AR 7 (TPP1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined