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

IllnessARSACS, differential diagnosis

Request form illness
Order shipping materials

Summary

Short information

Comprehensive differential diagnostic panel for autosomal recessive spastic ataxia, Charlevoix-Saguenay type, comprising 7 or altogether 17 curated genes according to the clinical signs

ID
AP9223
Number of loci
Loci typeCount
Gen7
Accredited laboratory test
Examined sequence length
16,8 kb (Core-/Core-canditate-Genes)
27,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + X

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
FXN633NM_000144.5AR
SACS13740NM_014363.6AR
SPG72388NM_003119.4AR, AD
KIF1A5073NM_004321.8AR
MTTP2685NM_000253.4AR
SPART2001NM_015087.5AR
TTPA837NM_000370.3AR

Informations about the disease

Synonyms
  • Spastic ataxia, Charlevoix-Saguenay type (SACS)
  • Alias: AR Spastic Ataxia Type 6 (SACS)
  • Alias: AR Spastic Ataxia of Charlevoix-Saguenay (SACS)
  • Allelic: Neuropathy, hereditary sensory, type IIC (KIF1A)
  • Abetalipoproteinemia (MTTP)
  • Allelic: Metabolic syndrome, protection against (MTTP)
  • Ataxia with isolated vitamin E deficiency (TTPA)
  • Friedreich ataxia (FXN)
  • Friedreich ataxia with retained reflexes (FXN)
  • NESCAV syndrome (KIF1A)
  • Spastic paraplegia 30, AD (KIF1A)
  • Spastic paraplegia 30, AR (KIF1A)
  • Spastic paraplegia 7, AR (SPG7)
  • Troyer syndrome (SPART)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined