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Macular dystrophy vitelliform (sequence analysis of BEST1 gene)
BEST1
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Methodology

NGS


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)

- 45

CPT Codes

- 81406

Specialties

- Rare diseases, Ophthalmology


CGC Reference

- 1444




Associated Tests


Macular dystrophy vitelliform (deletion/duplication analysis on BEST1 and PRPH2 genes)
Macular Dystrophy Vitelliform (sequence analysis of BEST1 and PRPH2 genes)
Retinitis pigmentosa (deletion/duplication analysis of BEST1 and PRPH2 genes)
Retinitis pigmentosa 50 (sequence analysis of BEST1 gene)
Vitreoretinopathy (NGS panel of 27 genes)