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Klinische FragestellungAmyotrophe Lateralsklerose, autosomal rezessiv; Differentialdiagnose

Auftragsschein Klin. Fragestellung

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-/Core-canditate-Gene)
44,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ALS24974NM_020919.4AR
DCTN13837NM_004082.5AD
FIG42724NM_014845.6AR
FUS1581NM_004960.4AD
NEFH3063NM_021076.4AD, AR, Sus
PRPH1413NM_006262.4AD, Sus
SOD1465NM_000454.5AR
BSCL21197NM_032667.6AD
GBE12109NM_000158.4AR
HEXA1590NM_000520.6AR
OPTN1734NM_021980.4AD, AR
SETX8034NM_015046.7AD
SIGMAR1672NM_005866.4AR
SLC52A21338NM_024531.5AR
SLC52A31410NM_033409.4AR
SMN1885NM_000344.4AR
SPG117332NM_025137.4AR

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
  • AR
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G12.2

Bioinformatik und klinische Interpretation

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