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)
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
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
H35.3
Bioinformatics and clinical interpretation
No text defined