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Klinische FragestellungMorbus Alexander, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Morbus Alexander mit 15 Leitlinien-kuratierten Genen sowie zusammen genommen 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
AP7285
Anzahl Gene
20
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,1 kb (Core-/Core-canditate-Gene)
37,9 kb (Erweitertes Panel: inkl. additional genes)
37,9 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ABCD1 | 2238 | NM_000033.4 | XLR | |
| ARSA | 1530 | NM_000487.6 | AR | |
| ASPA | 942 | NM_000049.4 | AR | |
| GALC | 2058 | NM_000153.4 | AR | |
| GCDH | 1317 | NM_000159.4 | AR | |
| GFAP | 1299 | NM_002055.5 | AD | |
| HEPACAM | 1251 | NM_152722.5 | AD, AR | |
| L2HGDH | 1392 | NM_024884.3 | AR | |
| MLC1 | 1134 | NM_015166.4 | AR | |
| PEX1 | 3852 | NM_000466.3 | AR | |
| PEX12 | 1080 | NM_000286.3 | AR | |
| PEX6 | 2943 | NM_000287.4 | AR | |
| DARS2 | 1938 | NM_018122.5 | AR | |
| EIF2B1 | 918 | NM_001414.4 | AR | |
| EIF2B2 | 1056 | NM_014239.4 | AR | |
| EIF2B3 | 1359 | NM_020365.5 | AR | |
| EIF2B4 | 1569 | NM_015636.4 | AR | |
| EIF2B5 | 2166 | NM_003907.3 | AR | |
| NOTCH3 | 6966 | NM_000435.3 | AD | |
| PLP1 | 834 | NM_000533.5 | 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
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E75.2
Bioinformatik und klinische Interpretation
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