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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessMERRF - Myoklonus epilepsy with ragged-red fibers

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Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion MERRF - Myoklonusepilepsy with ragged-red fibers

ID
MS9876
Number of genes
1 Accredited laboratory test
Examined sequence length
3,8 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
  • Gewebeprobe
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
POLG3720NM_002693.3AR, AD

Informations about the disease

Synonyms
  • Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
  • Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
  • Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
  • Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
  • Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined