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 |
Gene | Condition |
ATF6 | Achromatopsia 7 |
CNGA3 | Achromatopsia 2 |
CNGB3 | Achromatopsia 3 |
GNAT2 | Achromatopsia 4 |
PDE6C | Cone dystrophy 4 |
PDE6H | Achromatopsia 6 |
Genes: | ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H |
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 |
Ordering information: | Go to online ordering or download sample submission form |