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

IllnessGabriele-de Vries syndrome, differential diagnosis

Request form illness
Order shipping materials

Summary

Short information

Comprehensive differential diagnostic panel for Gabriele-de Vries syndrome comprising <1100 genes according to the clinical signs and the supplied HPO terms, respectively

ID
GP9448
Number of genes
2 Accredited laboratory test
Examined sequence length
1.000,0 kb (Core-/Core-canditate-Genes)
1.002,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
TecExom999999
  • No OMIM-Gs linked
n.k.
UBE3A2559NM_130838.4AD

Informations about the disease

Synonyms
  • Sympt.: Mild/profound developm. delay/intell. disabil., spectrum of functional/morph. abnormalities
  • YY1 haploinsufficiency syndrome (YY1)
Heredity, heredity patterns etc.
  • AD
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined