Deutsch
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)
25,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| CSF1R | 2919 | NM_005211.4 | AD | |
| DARS2 | 1938 | NM_018122.5 | AR | |
| AARS1 | 2927 | NM_001605.3 | AD | |
| CLN3 | 1317 | NM_001042432.2 | AR | |
| CLN5 | 1077 | NM_006493.4 | AR | |
| CLN6 | 936 | NM_017882.3 | AR | |
| CLN8 | 861 | NM_018941.4 | AR | |
| CTSD | 1239 | NM_001909.5 | AR | |
| CTSF | 1455 | NM_003793.4 | AR | |
| DARS1 | 1506 | NM_001349.4 | AR | |
| DNAJC5 | 597 | NM_025219.3 | AD | |
| GRN | 1782 | NM_002087.4 | AD, AR | |
| KCTD7 | 870 | NM_153033.5 | AR | |
| MFSD8 | 1557 | NM_152778.3 | AR | |
| PPT1 | 921 | NM_000310.4 | AR | |
| RARS1 | 1983 | AR | ||
| TPP1 | 1692 | NM_000391.4 | AR |
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