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

IllnessArts syndrome

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Arts syndrome

ID
AS0980
Number of genes
1 Accredited laboratory test
Examined sequence length
1,0 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
PRPS1957NM_002764.4XLR

Informations about the disease

Clinical Comment

Intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, loss of vision - optic atrophy

 

Synonyms
  • Alias: Ataxia, fatal XL, deafness, loss of vision
  • Alias: Lethal ataxia with deafness + optic atrophy
  • Alias: Mental retardation, XL, syndromic 18 (PRPS1)
  • Allelic: Charcot-Marie-Tooth disease, XLR, 5 (PRPS1)
  • Allelic: Deafness, XL 1 (PRPS1)
  • Allelic: Gout, PRPS-related (PRPS1)
  • Allelic: Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)
Heredity, heredity patterns etc.
  • XLR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined