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

IllnessWhite brain matter disorders, childhood onset

Request form illness

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
TecExom999999
  • No OMIM-Gs linked
n.k.
UBE3A2559NM_130838.4n.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