English
Klinische FragestellungLeukenzephalopathie + Hirnstamm-, Rückenmarks-Beteiligung + Laktat-Erhöhung; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Leukoenzephalopathie + Hirnstamm-, Rückenmarks-Beteiligung + Laktat-Erhöhung mit zusammen genommen 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
LP9987
Anzahl Gene
17
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
4,9 kb (Core-/Core-canditate-Gene)
25,6 kb (Erweitertes Panel: inkl. additional genes)
25,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| CSF1R | 2919 | NM_005211.4 | AD | |
| DARS2 | 1938 | NM_018122.5 | AR | |
| AARS1 | 2927 | NM_001605.3 | AR | |
| 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, AR | |
| 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 |
Infos zur Erkrankung
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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