Updates in Asper Ophthalmics

Asper Ophthalmics testing menu has been updated with Senior-Loken Syndrome gene panel. We have also added a number of genes to Cone-Rod Dystrophy, Vitelliform Macular Dystrophy, and comprehensive eye diseases panels. Comprehensive eye diseases panel now covers 283 genes associated with different eye disorders. View updated testing options at www.asperbio.com/asper-ophthalmics/

List of diseases covered by Senior-Loken Syndrome NGS panel

List of diseases covered by
Senior-Loken Syndrome NGS panel

Gene Condition
CEP290 Senior-Loken syndrome 6; Joubert syndrome 5;
Leber congenital amaurosis 10;
Meckel syndrome 4; Bardet-Biedl syndrome 14
INVS Nephronophthisis 2, infantile
IQCB1 Senior-Loken syndrome 5
NPHP1 Senior-Loken syndrome-1; Joubert syndrome 4;
Nephronophthisis 1, juvenile
NPHP3 Nephronophthisis 3; Meckel syndrome 7;
Renal-hepatic-pancreatic dysplasia 1
NPHP4 Senior-Loken syndrome 4
SDCCAG8 Senior-Loken syndrome 7; Bardet-Biedl syndrome 16
TRAF3IP1 Senior-Loken syndrome 9
WDR19 Senior-Loken syndrome 8; Nephronophthisis 13

Senior-Loken Syndrome

Senior-Loken Syndrome NGS panel

Genes: CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19

List of diseases covered by the panel


Price / TAT: 1070 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg 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.


Ordering information: Go to online ordering or download sample submission form