List of diseases covered by Achromatopsia NGS panel

Published 09/01/2018

List of diseases covered by Achromatopsia NGS panel

Gene Condition
ATF6 Achromatopsia 7
CNGA3 Achromatopsia 2
CNGB3 Achromatopsia 3
GNAT2 Achromatopsia 4
PDE6C Cone dystrophy 4
PDE6H Achromatopsia 6

Achromatopsia NGS panel

Published 20/02/2017

Achromatopsia NGS panel

Genes: ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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