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Early infantile epileptic encephalopathy EIEE52 (deletion/duplication analysis on SCN1B gene)
SCN1B
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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


CGC Reference

- 4754




Associated Tests


Generalized epilepsy with febrile seizures plus type 1 (GEFS+, sequence analysis of SCN1B gene)
Atrial fibrillation (NGS panel of 28 genes)
Brugada syndrome (WES based NGS panel of 23 genes, including CNV analysis)
Cardiac conduction changes (WES based NGS panel of 29 genes, including CNV analysis)