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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessHypotones Kind, Differentialdiagnose

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Summary

Short information

HP5859_KI

ID
HP5858
Number of loci
Loci typeCount
Gen2
Accredited laboratory test
Examined sequence length
0,0 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
  • ... limb girdle musc. dystrophies, rhabdomyolysis + metabolic muscle disorders...
  • ... myasthenic syndromes, cong. muscular dystrophies, motor neuronopathies, dist. myopathies ...
  • Alias. muscle hypotonia
  • Alias: muskuläre Hypotonie
  • Including causes like intellectual disability, inborn errors of metabolism, cong. myopathies ...
Heredity, heredity patterns etc.
  • AD
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined