IllnessWhite brain matter disorders, childhood onset
Summary
Short information
In addition to 16 guideline-curated genes, currently nearly 1500 genes are known, the mutations of which can trigger White brain matter disorders childhood onset.
ID
WP5859
Number of genes
2
Accredited laboratory test
Examined sequence length
1.000,0 kb (Core-/Core-canditate-Genes)
1.002,6 kb (Extended panel: incl. additional genes)
1.002,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
TecExom | 999999 |
| n.k. | |
UBE3A | 2559 | NM_130838.4 | n.k. |
Informations about the disease
Heredity, heredity patterns etc.
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
A81.2
Bioinformatics and clinical interpretation
No text defined