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IllnessNeuropathy, hereditary sensible + autonomous, infantile/juvenile; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Neuropathy, hereditary sensible + autonomous, infantile / juvenile, comprising 17 guideline-curated genes and altogether 26 kurated genes

ID
NP6655
Number of genes
21 Accredited laboratory test
Examined sequence length
43,3 kb (Core-/Core-canditate-Genes)
69,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ATL11677NM_015915.5AD
DST17028NM_001723.7AR
ELP13999NM_003640.5AR
KIF1A5073NM_004321.8AR, AD
NGF726NM_002506.3AR
NTRK12373NM_001012331.2AR
RAB7A624NM_004637.6AD
RETREG11494NM_001034850.3AR
SPTLC11422NM_006415.4AD
SPTLC21689NM_004863.4AD
WNK17149NM_018979.4AR
AAAS1641NM_015665.6AR
ARL6IP1612NM_015161.3AR
ATL31626NM_015459.5AD
DNMT14899NM_001130823.3AD
FLVCR11668NM_014053.4AR
GLA1290NM_000169.3XL
NAGLU2232NM_000263.4AD
SCN11A5376NM_014139.3AD
SCN9A5934NM_002977.3AD, AR
TTR444NM_000371.4AD

Informations about the disease

Clinical Comment

Group of disorders

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined

Laboratory requirement

  • Die in grün gezeigten Gene sind kuratiert und werden als Gen-Panel untersucht. Eine Erweiterung des Panels (blau gezeigte Gene, jeweils ebenfalls kuratiert) kann auf Anfrage erfolgen. Sofern unter "Erweitertes Panel" ein Minuszeichen angezeigt wird, sind nur Core-/Basis-Gene verfügbar.

  • Für die Anforderung einer genetischen Untersuchung senden Sie uns bitte die Krankheits-ID auf einem Überweisungsschein. Bitte die Material-Angabe beachten.

  • Für privat versicherte Patienten empfehlen wir einen Antrag auf Kostenübernahme bei der Krankenversicherung.

  • Die Untersuchung wird auch für Selbstzahler angeboten.