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

IllnessEmanuel syndrome, differential diagnosis [post-cytogenetic]

Summary

Short information

Comprehensive differential diagnostic panel for Emanuel syndrome comprising 4 curated genes according to the clinical signs

ID
EP9251
Number of genes
4 Accredited laboratory test
Examined sequence length
25,1 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
  • Heparin-anticoagulated blood (3-5 ml; infants 1 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
DHCR71428NM_001360.3AR
KDM6A4206NM_021140.4XL
KMT2D16614NM_003482.4AD
PIGN2796NM_176787.5AR

Informations about the disease

Synonyms
  • Alias: Emanuel syndrome
  • Alias: Supernumerary der(22)t(11;22) Syndrome
  • Alias: der(22)t(11;22)-Syndrom
  • Fryns syndrome (PIGN)
  • Kabuki syndrome 1 (KMT2D)
  • Kabuki syndrome 2 (KDM6A)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
  • Smith-Lemli-Opitz syndrome (DHCR7)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined