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

IllnessMacular degeneration, late; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for late onset Macular degeneration comprising 6 curated genes according to the clinical signs

ID
MP0011
Number of genes
6 Accredited laboratory test
Examined sequence length
1,4 kb (Core-/Core-canditate-Genes)
29,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
FBLN51347NM_006329.4AD
ABCA46822NM_000350.3AR
ARMS2324NM_001099667.3Sus
CFH3696NM_000186.4AD
HMCN116908NM_031935.3AD
RAX2555NM_032753.4AD

Informations about the disease

Clinical Comment

AMD is a group of chronic, degenerative retinal eye diseases causing progressive loss of central vision, leaving the peripheral or side vision intact; the leading cause of blindness + severe vision loss, responsible for 50% of all cases of blindness

 

Synonyms
  • Alias: Age-related macular degeneration (AMD)
  • Allelic: Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Allelic: Cockayne syndrome, type B (ERCC6)
  • Allelic: Cone-rod dystrophy 11 (RAX2)
  • Allelic: Cutis laxa, AD 2 (FBLN5)
  • Allelic: Cutis laxa, autosomal recessive, type IA (FBLN5)
  • Allelic: De Sanctis-Cacchione syndrome (ERCC6)
  • Allelic: Lung cancer, susceptibility to (ERCC6)
  • Allelic: Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Allelic: UV-sensitive syndrome 1 (ERCC6)
  • Macular degeneration, age-related (APOE)
  • Macular degeneration, age-related, 1 (HMCN1)
  • Macular degeneration, age-related, 11 (CST3)
  • Macular degeneration, age-related, 12 (CX3CR1)
  • Macular degeneration, age-related, 13, susceptibility to (CFI)
  • Macular degeneration, age-related, 14, reduced risk of (C2, CFB)
  • Macular degeneration, age-related, 15, susceptibility to (C9)
  • Macular degeneration, age-related, 2 (ABCA4)
  • Macular degeneration, age-related, 3 (FBLN5)
  • Macular degeneration, age-related, 4 (CFH)
  • Macular degeneration, age-related, 5, susceptibility to (ERCC6)
  • Macular degeneration, age-related, 6 (RAX2)
  • Macular degeneration, age-related, 7 (HTRA1)
  • Macular degeneration, age-related, 8 (ARMS2)
  • Macular degeneration, age-related, 9 (C3)
  • Macular degeneration, age-related, neovascular type (HTRA1)
  • Macular degeneration, age-related, reduced risk of (CFHR)
  • Macular degeneration, age-related, reduced risk of (CFHR3)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined