English
ErkrankungMorbus Alexander, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Morbus Alexander mit zusammen genommen 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
AP7285
Anzahl Gene
20
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,1 kb (Core-/Basis-Gene)
37,9 kb (Erweitertes Panel)
37,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| ABCD1 | 2238 | XLR | |
| ARSA | 1530 | AR | |
| ASPA | 942 | AR | |
| GALC | 2058 | AR | |
| GCDH | 1317 | AR | |
| GFAP | 1299 | AD | |
| HEPACAM | 1251 | AD und/oder AR | |
| L2HGDH | 1392 | AR | |
| MLC1 | 1134 | AR | |
| PEX1 | 3852 | AR | |
| PEX12 | 1080 | AR | |
| PEX6 | 2943 | AD und/oder AR | |
| DARS2 | 1938 | AR | |
| EIF2B1 | 918 | AR | |
| EIF2B2 | 1056 | AR | |
| EIF2B3 | 1359 | AR | |
| EIF2B4 | 1569 | AR | |
| EIF2B5 | 2166 | AR | |
| NOTCH3 | 6966 | AD und/oder Mult | |
| PLP1 | 834 | XLR |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_AP7285
Synonyme
- Alias: Alexander disease (GFAP)
- Allelic: Heimler syndrome 1 (PEX1)
- Allelic: Heimler syndrome 2 (PEX6)
- Allelic: Lateral meningocele syndrome (NOTCH3)
- Allelic: Myofibromatosis, infantile 2 (NOTCH3)
- Allelic: Spastic paraplegia 2, XL (PLP1)
- Adrenoleukodystrophy (ABCD1)
- Adrenomyeloneuropathy, adult (ABCD1)
- Canavan disease
- Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
- Glutaricaciduria, type I (GCDH)
- Krabbe disease (GALC)
- L-2-hydroxyglutaric aciduria (L2HGDH)
- Leukoencephalopathy with brain stem + spinal cord involvement + lactate elevation (DARS2)
- Leukoencephalopathy with vanishing white matter (EIF2B1, EIF2B2, EIFF2B3, EIF2B4, EIF2B5)
- Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
- Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
- Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitt. +/- mental retard. (HEPACAM)
- Metachromatic leukodystrophy (ARSA)
- Ovarioleukodystrophy (EIF2B2, EIF2B4, EIF2B5)
- Pelizaeus-Merzbacher disease (PLP1)
- Peroxisome biogenesis disorder 1A [Zellweger] + 1B [NALD/IRD] (PEX1)
- Peroxisome biogenesis disorder 3A [Zellweger] + 3B (PEX12)
- Peroxisome biogenesis disorder 4A [Zellweger] + 4B (PEX6)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder Mult
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E75.2
Bioinformatik und klinische Interpretation
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