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Epilepsy (WES based NGS panel for 597 genes, including CNV analysis)
AARS, ABAT, ABCC8, ACOX1, ACTL6B, ACY1, ADAR, ADCK3, ADGRG1, ADGRV1, ADPRHL2, ADSL, AGA, AHI1, AIMP1, AKT3, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMPD2, AMT, AP2M1, AP3B2, APTX, ARFGEF2, ARG1, ARHGEF9, A
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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)

- 60

Specialties

- Rare diseases, Neurology / Neuropediatrics


CGC Reference

- 5735




Associated Tests


Congenital disorders of glycosylation (NGS panel for 39 genes)
Movement diseases (WES based NGS panel of 905 genes, including CNV analysis)
Epileptic encephalopathy (WES based NGS panel of 137 genes, including CNV analysis)
Inborn errors of metabolism (WES based NGS panel of 833 genes, including CNV analysis)
Hereditary ataxias (WES based NGS panel of 214 genes, including CNV analysis)