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Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes)
ASPH, B3GLCT, BMP4, COL4A1, CYP1B1, FGFR2, FOXC1, FOXE3, HMX1, JAG1, MIR184, PAX6, PITX2, PITX3, PTCH1, PXDN, SLC38A8, VSX1
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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

Specialties

- Rare diseases, Ophthalmology


CGC Reference

- 5285




Associated Tests


Corneal anomalies (NGS panel of 33 genes)
Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis)
Axenfeld-Rieger syndrome (deletion/duplication analysis on PITX2 and FOXC1 genes)
Familial cerebral small vessel disease (NGS panel of 15 genes)
Septooptic dysplasia (WES based NGS panel of 17 gene, including CNV analysis)