English
ErkrankungAmyotrophe Lateralsklerose, autosomal rezessiv; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Amyotrophe Lateralsklerose, autosomal rezessiv, mit 5 Leitlinien-kuratierten und zusammen genommen 18 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
AP4859
Anzahl Gene
17
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,1 kb (Core-/Basis-Gene)
44,4 kb (Erweitertes Panel)
44,4 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 |
|---|---|---|---|
| ALS2 | 4974 | AR | |
| DCTN1 | 3837 | AD und/oder AR und/oder Sus | |
| FIG4 | 2724 | AD und/oder AR | |
| FUS | 1581 | AD und/oder AR und/oder Gen Fusion | |
| NEFH | 3063 | AD und/oder AR und/oder Sus | |
| PRPH | 1413 | AD und/oder AR und/oder Sus | |
| SOD1 | 465 | AD und/oder AR | |
| BSCL2 | 1197 | AD und/oder AR | |
| GBE1 | 2109 | AR | |
| HEXA | 1590 | AR | |
| OPTN | 1734 | AD und/oder AR und/oder Mult | |
| SETX | 8034 | AD und/oder AR | |
| SIGMAR1 | 672 | AR | |
| SLC52A2 | 1338 | AR | |
| SLC52A3 | 1410 | AR | |
| SMN1 | 885 | AR | |
| SPG11 | 7332 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Allgemeine ALS-Informationen s.u. AP0580
Synonyme
- Alias: ALS AR
- Allelic: Charcot-Marie-Tooth disease, axonal, type 2CC (NEFH)
- Allelic: Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
- Allelic: Charcot-Marie-Tooth disease, type 4J (FIG4)
- Allelic: Essential tremor, hereditary, 4 (FUS)
- Allelic: Neuronopathy, distal hereditary motor, type VIIB (DCTN1)
- Allelic: Perry syndrome [parkinsonism, depression, weight loss + hypoventilation] (DCTN1)
- Allelic: Polymicrogyria, bilateral temporooccipital (FIG4)
- Allelic: Short-rib thoracic dysplasia 6 with/-out polydactyly (NEK1)
- Allelic: Spastic paralysis, infantile onset ascending (ALS2)
- Allelic: Spastic paraplegia 11, AR (SPG11)
- Allelic: Spastic tetraplegia + axial hypotonia, progressive (SOD1)
- Allelic: Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
- Allelic: Yunis-Varon syndrome [cleidocranial dysplasia, digital anomalies, neuron loss] (FIG4)
- Amyotrophic lateral sclerosis 1 (SOD1)
- Amyotrophic lateral sclerosis 11 (FIG4)
- Amyotrophic lateral sclerosis 2, juvenile (ALS2)
- Amyotrophic lateral sclerosis 4, juvenile (SETX)
- Amyotrophic lateral sclerosis 5, juvenile (SSPG11)
- Amyotrophic lateral sclerosis 6, with/-out frontotemporal dementia (FUS)
- Amyotrophic lateral sclerosis, susceptibility to (ALS2)
- Amyotrophic lateral sclerosis, susceptibility to (NEFH)
- Amyotrophic lateral sclerosis, susceptibility to (PRPH)
- Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
- Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
- Brown-Vialetto-Van Laere syndrome 2 (SLC52A2)
- Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
- Fazio-Londe disease (SLC52A3)
- GM2-gangliosidosis, several forms (HEXA)
- Glycogen storage disease IV (GBE1)
- Lipodystrophy, congenital generalized, type 2 (BSCL2)
- Neuropathy, distal hereditary motor, type VC (BSCL2)
- Polyglucosan body disease, adult form (GBE1)
- Primary lateral sclerosis, juvenile (ALS2)
- Silver spastic paraplegia syndrome (BSCL2)
- Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
- Tay-Sachs disease (HEXA)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR
- AD und/oder AR und/oder Gen Fusion
- AD und/oder AR und/oder Mult
- AD und/oder AR und/oder Sus
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G12.2
Bioinformatik und klinische Interpretation
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