List of diseases covered by AMD NGS panel

Published 10/01/2018

List of diseases covered by AMD NGS panel

Gene	Condition
ABCA4	Stargardt disease 1; Cone-rod dystrophy 3; Macular degeneration, age-related, 2; Retinitis pigmentosa 19; Retinal dystrophy, early-onset severe
ARMS2	Macular degeneration, age-related, 8
C2	Macular degeneration, age-related, 14, reduced risk of
C3	Macular degeneration, age-related, 9
C9	Macular degeneration, age-related, 15, susceptibility to
CFB	Macular degeneration, age-related, 14, reduced risk of; Complement factor B deficiency
CFH	Macular degeneration, age-related, 4; Complement factor H deficiency
CFI	Macular degeneration, age-related, 13, susceptibility to; Complement factor I deficiency
CST3	Macular degeneration, age-related, 11
CX3CR1	Macular degeneration, age-related, 12
ERCC6	Macular degeneration, age-related, susceptibility to, 5
FBLN5	Macular degeneration, age-related, 3
HMCN1	Macular degeneration, age-related, 1
HTRA1	Macular degeneration, age-related, 7
RAX2	Cone-rod dystrophy 11; Macular degeneration, age-related, 6

Age-Related Macular Degeneration – AMD

Published 28/02/2017

Age-Related Macular Degeneration
Targeted mutation analysis

Genes:

ARMS2, CFH

Lab method:

Sanger sequencing

No of
detectable
markers:

TAT:

4-6 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

500 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

2 ml of saliva

Buccal sell sample

Ordering information:

Go to online ordering or download sample submission form

Indications for genetic testing:
1. Risk determination of at-risk individuals for early diagnosis and prediction of disease progression
2. Risk assessment of individuals with family history of AMD
3. Genetic counseling

Age-related macular degeneration (AMD) is characterized by pathological changes of the retinal pigment epithelium (RPE), progressive degeneration of photoreceptors, thickened Bruch’s membrane and choroidal neovascularization. These alterations lead to the loss of sharp, central vision. It is an age-related process and usually develops after a person reaches 50 years.
In Western Europe and USA 30% of people older than 75 years suffer from different types of AMD. 85-90% cases of AMD are dry AMD, which have no treatment. 10-15% cases of AMD are wet AMD, which have number of treatments available (injection into the eye to stop further development) and early diagnosis can save vision.
AMD increased risk assessment enables prevention and early diagnosis of the disease. The early diagnosis is vital to delay progression of disease and vision loss.