List of diseases covered by AMD NGS panel

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

Age-Related Macular Degeneration
Targeted mutation analysis

Genes: ARMS2, CFH

Lab method: Sanger sequencing

No of

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.

Expanded AMD panel

We have expanded AMD testing panel with 11 new genes. The updated next generation sequencing panel now comprises 21 genes (ABCA4, ARMS2, C2, C3, C9, CCR3, CFB, CFH, CFI, CST3, CXCL8, CX3CR1, ERCC6, FBLN5, HMCN1, HTRA1, IL6, IL1A, NLRP3, RAX2, TLR4) associated with AMD. Targeted mutation analysis is also available.