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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

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Summary

Short information

Applying this very comprehensive panel comprising approx. 1300 curated genes, symptomatic infants, asymptomatic individuals and couples can be tested for being homozygous or heterozygous carriers for plentiful inherited disorders.

ID
PP9879
Number of loci
Loci typeCount
Gen2
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
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

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