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

NP8889

Number of genes

5 Accredited laboratory test

Examined sequence length

2,3 kb (Core-/Core-canditate-Genes)
11,9 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
SEPTIN9	2223	604061	NM_006640.5	AD
DNMT3B	2562	602900	NM_006892.4	AR
HSPB8	591	608014	NM_014365.3	AD
PMP22	483	601097	NM_000304.4	AD
SMCHD1	6018	614982	NM_015295.3	AD

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined