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

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

Name	Exon Length (bp)	OMIM-G	Heredity
FBLN5	1347	604580	AD
ABCA4	6822	601691	AR
ARMS2	324	611313	Sus
CFH	3696	134370	AD
HMCN1	16908	608548	AD
RAX2	555	610362	AD

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

H35.3

Bioinformatics and clinical interpretation

No text defined