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Microphthalmia (NGS panel of 26 genes)
ABCB6, ALDH1A3, BCOR, BMP4, CHD7, FREM1, GDF3, GDF6, HCCS, HMGB3, MAB21L2, MFRP, MITF, NAA10, OTX2, PRSS56, RARB, RAX, SHH, SIX6, SMOC1, SOX2, STRA6, TENM3, VAX1, VSX2,
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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, Pediatrics


CGC Reference

- 5243




Associated Tests


Congenital anomalies of the kidney and urinary tract (CAKUT) (WES based NGS panel of 66 genes, including CNV analysis)
Leber congenital amaurosis (NGS panel of 20 genes)
Mental retardation, X-linked (NGS panel for 89 genes)
Clefting (WES based NGS panel of 231 genes, including CNV analysis)
Genetic syndromes with skeletal involvement (NGS panel of 38 genes)