©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessNeuroferritinopathy, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Neuroferritinopathy containing 12 guideline-curated and altogether 14 curated genes according to the clinical signs

ID
NP4442
Number of genes
13 Accredited laboratory test
Examined sequence length
36,9 kb (Core-/Core-canditate-Genes)
39,3 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
ATXN23462NM_002973.4AD
ATXN31086NM_004993.6AD
CP3198NM_000096.4AR
FTL528NM_000146.4AD, AR
HTT9429NM_002111.8AD
NPC13837NM_000271.5AR
NPC2456NM_006432.5AR
PANK21713NM_153638.4AR
PLA2G62421NM_003560.4AR
VPS13A9408NM_033305.3AR
XK1335NM_021083.4XL
PRKN1398NM_004562.3AR
TOR1A999NM_000113.3AD

Informations about the disease

Synonyms
  • Alias: Adult basal ganglia disease
  • Alias: Ferritin-related neurodegeneration
  • Alias: Hereditary ferritinopathy
  • Allelic: Adenocarcinoma of lung, somatic (PRKN)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 13 (ATXN2)
  • Allelic: Arthrogryposis multiplex congenita 5 (TOR1A)
  • Allelic: Cerebellar ataxia (CP)
  • Allelic: Hyperferritinemia-cataract syndrome (FTL)
  • Allelic: Hypoceruloplasminemia, hereditary (CP)
  • Allelic: Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Allelic: L-ferritin deficiency, AD + AR (FTL)
  • Allelic: Lopes-Maciel-Rodan syndrome (HTT)
  • Allelic: Ovarian cancer, somatic (PRKN)
  • Allelic: Parkinson disease, late-onset, susceptibility to (ATXN2)
  • Allelic: Parkinson disease, susceptibility to (TBP)
  • Choreoacanthocytosis (VPS13A)
  • Dystonia-1, modifier of (TOR1A)
  • Dystonia-1, torsion (TOR1A)
  • HARP syndrome (PANK2)
  • Hemosiderosis, systemic, due to aceruloplasminemia (CP)
  • Huntington disease (HTT_CAG)
  • Machado-Joseph disease (ATXN3_CAG)
  • McLeod syndrome with/-out chronic granulomatous disease (XK)
  • Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
  • Neurodegeneration with brain iron accumulation 3 (FTL)
  • Niemann-Pick disease, type C1 (NPC1)
  • Niemann-Pick disease, type C2 (NPC2)
  • Niemann-Pick disease, type D (NPC1)
  • Parkinson disease 14, AR (PLA2G6)
  • Parkinson disease, juvenile, type 2 (PRKN)
  • Spinocerebellar ataxia 17 (TBP_CAG)
  • Spinocerebellar ataxia 2 (ATXN2_CAG)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined