IllnessMicrocephaly + dysgyria, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Microcephaly + dysgyria comprising 5 guideline-curated and altogether 7 curated genes
ID
MP1227
Number of genes
6
Accredited laboratory test
Examined sequence length
19,4 kb (Core-/Core-canditate-Genes)
26,1 kb (Extended panel: incl. additional genes)
26,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Microcephaly + dysgyria: nearly 20 genes for DD, e.g. tubulinopathies, rasopathies (Warburg micro syndrome), syndromes with microcephaly + polymicrogyria (Goldberg-Shprintzen syndrome)
Synonyms
- Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNK1H1)
- Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
- Allelic: Mental retardation, AD 13 (DYNC1H1)
- Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
- Allelic: Symmetric circumferential skin creases, congenital, 1 (TUBB)
- Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
- Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
- Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
- Lissencephaly 3 (TUBA1A)
- Pachygyria, microcephaly, developmental delay, dysmorphic facies, with/-out seizures (TUBGCP2)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q02
Bioinformatics and clinical interpretation
No text defined