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Early infantile epileptic encephalopathy ((EIEE1 sequence analysis of ARX gene)
ARX
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Methodology

Sanger sequencing


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

CGC Reference

- 3977




Associated Tests


Lissencephaly 2, X-linked (sequence analysis of ARX gene)
X-linked mental retardation (deletion/duplication analysis, multiple genes)
Lissencephaly 2, X-linked (deletion/duplication analysis on ARX gene)
Diseases of sexual development (WES based NGS panel of 46 genes, including CNV analysis)
Female infertility (NGS panel of 131 gene)