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

IllnessMicrocephaly, predominantly secondary, syndromal; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly, predominantly secondary, syndromal, comprising 13 guideline-curated genes

ID
MP1234
Number of genes
13 Accredited laboratory test
Examined sequence length
74,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CREBBP7329AD
EP3007245AD
ERCC81191AR
KDM6A4206XLD
KMT2D16614AD
MECP21461XL
NIPBL8415AD
RAD211896AD
SMC1A3702XLD
SMC33654AD
UBE3A2559AD
VPS13B12069AR
ZEB23645AD

Informations about the disease

Clinical Comment

Simply requesting this panel does not appear sensible, instead gene candidates should be selected from the panel on the basis of clinical symptoms.

 

Synonyms
  • Alias: Microcephaly, primarily secondary, syndromal
  • Angelman syndrome (UBE3A)
  • Cockayne syndrome, type A (ERCC8)
  • Cohen syndrome (VPS13B)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Encephalopathy, neonatal severe (MECP2)
  • Kabuki syndrome 1 (KMZ2D)
  • Kabuki syndrome 2 (KDM6A)
  • Menke-Hennekam syndrome 1 (CREBBP)
  • Menke-Hennekam syndrome 2 (EP300)
  • Mental retardation, X-linked syndromic, Lubs type (MECP2)
  • Mental retardation, X-linked, syndromic 13 (MECP2)
  • Mowat-Wilson syndrome (ZEB2)
  • Rett syndrome (MECP2)
  • Rett syndrome, atypical (MECP2)
  • Rett syndrome, preserved speech variant (MECP2)
  • Rubinstein-Taybi syndrome 1 (CREBBP)
  • Rubinstein-Taybi syndrome 2 (EP300)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q02

Bioinformatics and clinical interpretation

No text defined