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

IllnessPolymicrogyria, asymmetric

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion assymmetric polymicrogyria

ID
PS0671
Number of genes
1 Accredited laboratory test
Examined sequence length
1,4 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-GHeredity
TUBB2B1338AD

Informations about the disease

Clinical Comment

Generalized or focal polmicrogryia-like cortical dysplasia, simplified gyral pattern, or microlissencephaly/agenesis of corpus callosum. Microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, ocular abnormalities (strabismus, ptosis, optic atrophy)

 

Synonyms
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Polymicrogyria due to TUBB2B mutation
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code
Q04.3

Bioinformatics and clinical interpretation

No text defined