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

IllnessPLA2G6-associated neurodegeneration

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion PLA2G6-associated neurodegeneration

ID
PS0650
Number of genes
1 Accredited laboratory test
Examined sequence length
2,5 kb (Core-/Core-canditate-Genes)
- (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
PLA2G62421NM_003560.4AR

Informations about the disease

Clinical Comment

Neurodegeneration with brain iron accumulation with psychomotor delay + regression, symmetrical pyramidal tract signs + spastic tetraplegia; may be classic or atypical

 

Synonyms
  • Alias: Karak syndrome (PLA2G6)
  • Alias: Phospholipase A2-associated neurodegeneration, PLAN (PLA2G6)
  • Allelic: Infantile neuroaxonal dystrophy 1 (PLA2G6)
  • Allelic: Parkinson disease 14, AR (PLA2G6)
  • Neurodegeneration with brain iron accumulation 2B (PLA2G6)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined