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Achromatopsia (NGS panel of 6 genes)
CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, ATF6
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Specimen Requirements
| Descriptive |
Volume / Concentration 1 |
Container |
Transport temperature |
Sample viability (days) 2 |
|---|---|---|---|---|
| DNA | ≥ 100 µL [50 ng/µL] | Eppendorf Safe-lock | Room temp. | n/a |
| Peripheral blood | ≥ 3 mL | EDTA | Room temp. | 5 |
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When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2
Maximum shipping time to ensure sample quality
Turnaround Time (Days)
- 45
Specialties
- Rare diseases, Ophthalmology, Pediatrics
CGC Reference
- 4820
Associated Tests
Cone rod dystrophy (NGS panel of 36 genes)
Achromatopsia 2 (sequence analysis of PDE6C gene)
Achromatopsia 2 (sequence analysis of CNGA3 gene)
Achromatopsia 4 (sequence analysis of GNAT2 gene)
Achromatopsia 6 (sequence analysis of PDE6H gene)