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

IllnessDermopathie, restriktive; Differentialdiagnose

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Summary

Short information

A panel containing 2 curated genes fpr restrictive dermopathy

ID
DP0928
Number of genes
2 Accredited laboratory test
Examined sequence length
3,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
LMNA1995NM_170707.4de novo
ZMPSTE241428NM_005857.5AR

Informations about the disease

Synonyms
  • Allelic: Cardiomyopathy, dilated, 1A (LMNA)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Allelic: Heart-hand syndrome, Slovenian type (LMNA)
  • Allelic: Hutchinson-Gilford progeria (LMNA)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Malouf syndrome (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Restrictive dermopathy 1 (ZMPSTE24)
  • Restrictive dermopathy 2 (LMNA)
Heredity, heredity patterns etc.
  • AR
  • de novo
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined