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

IllnessInfantile-Onset Spinocerebellar Ataxia; differential diagnosis


Short information

Comprehensive differential diagnostic panel for Infantile-Onset Spinocerebellar Ataxia comprising 4 curated genes according to the clinical signs

Number of genes
4 Accredited laboratory test
Examined sequence length
2,1 kb (Core-/Core-canditate-Genes)
15,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
TWNK2055NM_021830.5AD, AR
POLG3720NM_002693.3AR, AD

Informations about the disease

  • Alias: Infantile-Onset Spinocerebellar Ataxia, IOSCA
  • Alias: OHAHA syndrome - Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, Athetosis (TWNK)
  • Alias: Spinocerebellar ataxia, infantile + sensory neuropathy (TWNK)
  • Allelic: Breast cancer, susceptibility to (ATM)
  • Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
  • Allelic: Lymphoma, mantle cell, somatic (ATM)
  • Allelic: Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
  • Allelic: Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
  • Allelic: Perrault syndrome 5 (TWNK)
  • Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
  • Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
  • Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
  • Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
  • Ataxia-telangiectasia (ATM)
  • Friedreich ataxia (FXN)
  • Friedreich ataxia with retained reflexes (FXN)
  • Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
  • Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
  • Spinocerebellar ataxia, AR [panelapp] (TWNK)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined