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

IllnessHypotonia-cystinuria syndrome, differential diagnosis

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Summary

Short information

Deletion analysis of the SLC3A1 and PREPL genes [and potentially adherent genes]

ID
HP7129
Number of loci
No loci linked Accredited laboratory test
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

array, MLPA

 

Loci

No loci linked

Informations about the disease

Synonyms
  • Alias: 2p21 deletion syndrome including SLC3A1 + PREPL [+ PPM1B, C2ORF34, possibly other genes]
  • Cystinuria (SLC3A1)
  • Myasthenic syndrome, congenital, 22 (PREPL)
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined