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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessNeuralgic amyotrophy, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Neuralgic amyotrophy containing 1 core candidate gene and altogether 5 curated genes according to the clinical signs

ID
NP8889
Number of genes
4 Accredited laboratory test
Examined sequence length
2,3 kb (Core-/Core-canditate-Genes)
11,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SEPTIN92223NM_006640.5AD
DNMT3B2562NM_006892.4AR
HSPB8591NM_014365.3AD
SMCHD16018NM_015295.3AD

Informations about the disease

Synonyms
  • Alias: Acute brachial plexus neuritis
  • Alias: Brachial plexus neuritis
  • Alias: Idiopathic neuralgic amyotrophy
  • Alias: Immune brachial plexus neuropathy
  • Alias: Mononeuritis multiplex with brachial predilection
  • Alias: Neuralgic shoulder amyotrophy
  • Alias: Parsonage-Turner syndrome
  • Allelic: Bosma arhinia microphthalmia syndrome (SMCHD1)
  • Amyotrophy, hereditary neuralgic (SEPTIN9)
  • Charcot-Marie-Tooth disease, axonal, type 2L (HSPB8)
  • Fascioscapulohumeral muscular dystrophy 2, digenic (SMCHD1)
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B)
  • Neuronopathy, distal hereditary motor, type IIA (HSPB8)
  • Neuropathy, recurrent, with pressure palsies (PMP22 del.)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined