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

IllnessHT amedes infant gene care

Summary

Short information

Applying this very comprehensive panel comprising >2600 curated genes, symptomatic infants, asymptomatic individuals and couples can be tested for being homozygous or heterozygous carriers for plentiful monogenically inherited disorders.

ID
PP9879
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_130838.4AD

Informations about the disease

Synonyms
  • Alias: EHT amedes...
  • Alias: Mutation (carrier) test
  • Anwendung bei schwerer, unklarer (genetisch bedingter) Erkrankung im Kindesalter
Heredity, heredity patterns etc.
  • AD
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined