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Epilepsy, familial focal with variable foci (deletion/duplication analysis of DEPDC5 gene)
DEPDC5
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Methodology

Real-time quantitative PCR (RT-qPCR)


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, Neurology / Neuropediatrics, Pediatrics


CGC Reference

- 5582




Associated Tests


Epilepsy, familial focal with variable foci (sequence analysis of DEPDC5 gene)
Malformations of cortical development (lissencephaly, periventricular nodular heterotopia, polymicrogyria, megalencephaly-polymicrogyria and dysplastic megalencephaly) (NGS panel of 66 genes)
Nocturnal frontal lobe epilepsy (NGS panel of 8 genes)