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

IllnessMicrocephaly + double cortex/subcortical band heterotypia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly [double cortex/subcortical band heterotypia] containing 2 guideline-curated genes and altogether 7 curated genes according to the clinical signs

ID
MP1235
Number of genes
2 Accredited laboratory test
Examined sequence length
2,4 kb (Core-/Core-canditate-Genes)
- (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
DCX1083NM_178153.3XL
PAFAH1B11233NM_000430.4AD

Informations about the disease

Clinical Comment

Leitlinie: Klassifikation und Diagnostik der Mikrozephalie; Klassifikation S2k; Stand: 13.09.2019, gültig bis 31.08.2024

 

Synonyms
  • Alias: DCX-related subcortical band heterotopia
  • Allelic: Deafness, AD 20/26 (ACTG1)
  • Allelic: Dystonia, juvenile-onset (ACTB)
  • Allelic: Lissencephaly, XL (DCX)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Baraitser-Winter syndrome 2 (ACTG1)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Lissencephaly 1 (PAFAH1B1)
  • Lissencephaly 10 (CEP85L)
  • Lissencephaly 10 [MONDO:0030031] (CEP85L)
  • Lissencephaly 3 (TUBA1A)
  • Microcephaly; double cortex/subcortical band heterotypy
  • Subcortical laminal heterotopia, XL (DCX)
  • Subcortical laminar heterotopia (PAFAH1B1)
Heredity, heredity patterns etc.
  • AD
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined