English
Klinische FragestellungRiesenaxon-Neuropathie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Riesenaxon-Neuropathie mit 1 Leitlinien-kuratierten "core"-Gen, 4 "core candidate"-Genen und zusammen genommen 12 kuratierten Genen gemäß der klinischen Verdachtsdiagnose
ID
RP1779
Anzahl Gene
12
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
10,7 kb (Core-/Core-canditate-Gene)
33,6 kb (Erweitertes Panel: inkl. additional genes)
33,6 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 |
|---|---|---|---|---|
| ARSA | 1530 | NM_000487.6 | AR | |
| GAN | 1794 | NM_022041.4 | AR | |
| GDAP1 | 1077 | NM_018972.4 | AD, AR | |
| PLA2G6 | 2421 | NM_003560.4 | AR | |
| SH3TC2 | 3867 | NM_024577.4 | AD, AR | |
| ATP7A | 4503 | NM_000052.7 | XLR | |
| DCAF8 | 1794 | NM_015726.4 | AD | |
| EGR2 | 1431 | NM_000399.5 | AD, AR | |
| NEFL | 1633 | NM_006158.5 | AD, AR | |
| SBF1 | 5682 | NM_002972.4 | AR | |
| SBF2 | 5550 | NM_030962.4 | AR | |
| TRIM2 | 2235 | NM_001130067.2 | AR |
Infos zur Erkrankung
Synonyme
- Allelic: Neurodegeneration with brain iron accumulation 2B (PLA2G6)
- Allelic: Parkinson disease 14, AR (PLA2G6)
- Charcot-Marie-Tooth disease, AR intermediate, A (GDAP1)
- Charcot-Marie-Tooth disease, DI G (NEFL)
- Charcot-Marie-Tooth disease, axonal, type 2K (GDAP1)
- Charcot-Marie-Tooth disease, axonal, with vocal cord paresis (GDAP1)
- Charcot-Marie-Tooth disease, type 1D (EGR2)
- Charcot-Marie-Tooth disease, type 1F (NEFL)
- Charcot-Marie-Tooth disease, type 2E (NEFL)
- Charcot-Marie-Tooth disease, type 2R (TRIM2)
- Charcot-Marie-Tooth disease, type 4A (GDAP1)
- Charcot-Marie-Tooth disease, type 4B1 (MTMR2)
- Charcot-Marie-Tooth disease, type 4B2 (SBF2)
- Charcot-Marie-Tooth disease, type 4B3 (SBF1)
- Charcot-Marie-Tooth disease, type 4C (SH3TC2)
- Dejerine-Sottas disease (EGR2)
- Giant axonal neuropathy-1 (GAN)
- Giant axonal neuropathy-2, AD (DCAF8)
- Hypomyelinating neuropathy, congenital, 1 (EGR2)
- Infantile neuroaxonal dystrophy 1 (PLA2G6)
- Menkes disease (ATP7A)
- Metachromatic leukodystrophy (ARSA)
- Neurodegeneration with brain iron accumulation 2B (PPLA2G6)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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