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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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Heredity |
|---|---|---|---|
| LAMB2 | 5397 | AR |
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
Q89.8
Bioinformatics and clinical interpretation
No text defined