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

IllnessPierson syndrome

Summary

Short information

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

ID
PS0571
Number of genes
1 Accredited laboratory test
Examined sequence length
5,4 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
LAMB25397NM_002292.4AR

Informations about the disease

Clinical Comment

Congenital nephrotic syndrome + ocular anomalies with microcoria

 

Synonyms
  • Alias: Microcoria-congenital nephrotic syndrome
  • Allelic: Nephrotic syndrome 5 with/-out ocular anomalies (LAMB2)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined