English
Klinische FragestellungNeuroferritinopathie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Neuroferritinopathie mit 12 Leitlinien-kuratierten bzw. zusammen genommen 14 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
NP4442
Anzahl Loci
| Locus-Typ | Anzahl |
|---|---|
| Gen | 13 |
Untersuchte Sequenzlänge
36,9 kb (Core-/Core-canditate-Gene)
39,3 kb (Erweitertes Panel: inkl. additional genes)
39,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Loci
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ATXN2 | 3462 | NM_002973.4 | AD | |
| ATXN3 | 1086 | NM_004993.6 | AD | |
| CP | 3198 | NM_000096.4 | AR | |
| FTL | 528 | NM_000146.4 | AD, AR | |
| HTT | 9429 | NM_002111.8 | AD | |
| NPC1 | 3837 | NM_000271.5 | AR | |
| NPC2 | 456 | NM_006432.5 | AR | |
| PANK2 | 1713 | NM_153638.4 | AR | |
| PLA2G6 | 2421 | NM_003560.4 | AR | |
| VPS13A | 9408 | NM_033305.3 | AR | |
| XK | 1335 | NM_021083.4 | XL | |
| PRKN | 1398 | NM_004562.3 | AR | |
| TOR1A | 999 | NM_000113.3 | AD |
Infos zur Erkrankung
Synonyme
- Alias: Adult basal ganglia disease
- Alias: Ferritin-related neurodegeneration
- Alias: Hereditary ferritinopathy
- Allelic: Adenocarcinoma of lung, somatic (PRKN)
- Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
- Allelic: Arthrogryposis multiplex congenita 5 (TOR1A)
- Allelic: Cerebellar ataxia (CP)
- Allelic: Hyperferritinemia-cataract syndrome (FTL)
- Allelic: Hypoceruloplasminemia, hereditary (CP)
- Allelic: Infantile neuroaxonal dystrophy 1 (PLA2G6)
- Allelic: L-ferritin deficiency, AD + AR (FTL)
- Allelic: Lopes-Maciel-Rodan syndrome (HTT)
- Allelic: Ovarian cancer, somatic (PRKN)
- Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
- Allelic: Parkinson disease, susceptibility to (TBP)
- Choreoacanthocytosis (VPS13A)
- Dystonia-1, modifier of (TOR1A)
- Dystonia-1, torsion (TOR1A)
- HARP syndrome (PANK2)
- Hemosiderosis, systemic, due to aceruloplasminemia (CP)
- Huntington disease (HTT_CAG)
- Machado-Joseph disease (ATXN3_CAG)
- McLeod syndrome with/-out chronic granulomatous disease (XK)
- Neurodegeneration with brain iron accumulation 1 (PANK2)
- Neurodegeneration with brain iron accumulation 2B (PLA2G6)
- Neurodegeneration with brain iron accumulation 3 (FTL)
- Niemann-Pick disease, type C1 (NPC1)
- Niemann-Pick disease, type C2 (NPC2)
- Niemann-Pick disease, type D (NPC1)
- Parkinson disease 14, AR (PLA2G6)
- Parkinson disease, juvenile, type 2 (PRKN)
- Spinocerebellar ataxia 17 (TBP_CAG)
- Spinocerebellar ataxia 2 (ATXN2_CAG)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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