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

IllnessNail-patella syndrome

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion nail-patella syndrome

ID
NS0570
Number of genes
1 Accredited laboratory test
Examined sequence length
1,2 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
LMX1B1188NM_002316.4AD

Informations about the disease

Clinical Comment

[https://register.awmf.org/de/leitlinien/detail/013-003]

illness_ClinicalComment_NS0570

 

Synonyms
  • Alias: Fong disease
  • Alias: Onychoosteodysplasia
  • Alias: Turner-Kieser syndrome
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined