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ErkrankungNeuropathie, hereditäre sensible + autonome, infantile/juvenile; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Neuropathie, hereditäre sensible + autonome, infantile/juvenile, mit 24 Leitlinien-kuratierten Genen

ID
NP6655
Anzahl Gene
14 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
42,7 kb (Core-/Basis-Gene)
60,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ATL11677AD und/oder AR
DST17028AR
ELP13999AR
KIF1A5073AD und/oder AR
NGF726AR
NTRK12373AD und/oder AR
RETREG11494AR
SPTLC11422AD und/oder Ass
SPTLC21689AD
WNK17149AD und/oder AR
ATL31626AD
DNMT14899AD und/oder Impr
SCN11A5376AD
SCN9A5934AD und/oder AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

 

Synonyme
  • Alias: HSAN, HSN
  • Alias: Hereditäre sensibel-autonome Neuropathie, HSAN, infantile/juvenile
  • Alias: Hereditäre sensible und autonome Neuropathie, HSAN, infantile/juvenile
  • Alias: Polyneuropathie
  • Alias: Sensory and autonomic neuropathy type 2, HSAN, HSAN, infantile/juvenile
  • Allelic: Carpal tunnel syndrome, familial (TTR)
  • Allelic: Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
  • Allelic: Dysautonomia, familial (ELP1)
  • Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
  • Allelic: Epidermolysis bullosa simplex, AR 2 (DST)
  • Allelic: Episodic pain syndrome, familial, 3 (SCN11A)
  • Allelic: Fabry disease, cardiac variant (GLA)
  • Allelic: NESCAV syndrome (KIF1A)
  • Allelic: Pseudohypoaldosteronism, type IIC (WNK1)
  • Allelic: Spastic paraplegia 30, AD + AR (KIF1A)
  • Allelic: Spastic paraplegia 3A, AD (ATL1)
  • Achalasia-addisonianism-alacrimia syndrome (AAAS)
  • Alacrima, achalasia + mental retardation syndrome (GMPPA)
  • Amyloidosis, hereditary, transthyretin-related (TTR)
  • Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
  • Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
  • Episodic pain syndrome, familial, 2 (SCN10A)
  • Fabry disease (GLA)
  • Insensitivity to pain, congenital, with anhidrosis (NTRK1)
  • Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
  • Neuropathy, hereditary [panelapp] (CLTCL1)
  • Neuropathy, hereditary sensory + autonomic, type IA (SPTLC1)
  • Neuropathy, hereditary sensory + autonomic, type IC (SPTLC2)
  • Neuropathy, hereditary sensory + autonomic, type II (WNK1)
  • Neuropathy, hereditary sensory + autonomic, type IIB (RETREG1 syn. FAM134B)
  • Neuropathy, hereditary sensory + autonomic, type V (NGF)
  • Neuropathy, hereditary sensory + autonomic, type VI (DST)
  • Neuropathy, hereditary sensory + autonomic, type VII (SCN11A)
  • Neuropathy, hereditary sensory + autonomic, type VIII (PRDM12)
  • Neuropathy, hereditary sensory, type ID (ATL1)
  • Neuropathy, hereditary sensory, type IE (DNMT1)
  • Neuropathy, hereditary sensory, type IF (ATL3)
  • Neuropathy, hereditary sensory, type IIC (KIF1A)
  • Neuropathy, hereditary sensory, with spastic paraplegia (CCT5)
  • Spastic paraplegia 61, AR (ARL6IP1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder Ass
  • AD und/oder Impr
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G60.-

Bioinformatik und klinische Interpretation

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