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Macular Dystrophy Vitelliform (sequence analysis of BEST1 and PRPH2 genes)
BEST1, PRPH2
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Methodology

Sanger sequencing


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
1 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)

- 60

Specialties

- Rare diseases, Ophthalmology


CGC Reference

- 1262




Associated Tests


Macular dystrophy vitelliform (deletion/duplication analysis on BEST1 and PRPH2 genes)
Retinitis pigmentosa (deletion/duplication analysis of BEST1 and PRPH2 genes)
Cone rod dystrophy (NGS panel of 36 genes)
Stargardt disease and macular dystrophy (WES based NGS panel of 15 genes, including CNV analysis)
Macular dystrophy vitelliform (sequence analysis of BEST1 gene)