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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessSmall-fiber neuropathy, SFN; differential diagnosis

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Summary

Short information

A comprehensive differential diagnostic panel for Small-fiber neuropathy, SFN, comprising 12 guideline-curated genes

ID
SP9988
Number of loci
Loci typeCount
Gen12
Accredited laboratory test
Examined sequence length
20,6 kb (Core-/Core-canditate-Genes)
34,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

SP9988_DH

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SCN10A5871NM_006514.4AD
SCN11A5376NM_014139.3AD
SCN9A5934NM_002977.3AD, AR
TRPA13360NM_007332.3AD
ATL11677NM_015915.5AD
ATL31626NM_015459.5AD
DNMT14899NM_001130823.3AD
GLA1290NM_000169.3XL
RAB7A624NM_004637.6AD
SPTLC11422NM_006415.4AD
SPTLC21689NM_004863.4AD
TTR444NM_000371.4AD

Informations about the disease

Clinical Comment

illness_ClinicalComment_SP9988

 

Synonyms
  • Alias: Natrium-Ionenkanalkrankheit-assoziierte Small-Fiber-Neuropathie, SFN
  • Alias: Ulcero-mutilating neuropathy (RAB7A)
  • Allelic: Carpal tunnel syndrome, familial (TTR)
  • Allelic: Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
  • Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
  • Allelic: Episodic pain syndrome, familial, 3 (SCN11A)
  • Allelic: Fabry disease, cardiac variant (GLA)
  • Allelic: Spastic paraplegia 3A, AD (ATL1)
  • Amyloidosis, hereditary, transthyretin-related (TTR)
  • Charcot-Marie-Tooth disease, type 2B (RAB7A)
  • Episodic pain syndrome, familial, 1 (TRPA1)
  • Episodic pain syndrome, familial, 2 (SCN10A)
  • Erythermalgia, primary (SCN9A)
  • Fabry disease (GLA)
  • Neuropathy, hereditary sensory + autonomic, type IA (SPTLC1)
  • Neuropathy, hereditary sensory + autonomic, type IC (SPTLC2)
  • Neuropathy, hereditary sensory + autonomic, type VII (SCN11A)
  • Neuropathy, hereditary sensory, type ID (ATL1)
  • Neuropathy, hereditary sensory, type IE (DNMT1)
  • Neuropathy, hereditary sensory, type IF (ATL3)
  • Small fiber neuropathy (SCN9A)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined