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Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, sequence analysis of AKT3 gene)
AKT3
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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, Pediatrics


CGC Reference

- 1505




Associated Tests


Macrocephaly (NGS panel for 16 genes)
Malformations of cortical development (lissencephaly, periventricular nodular heterotopia, polymicrogyria, megalencephaly-polymicrogyria and dysplastic megalencephaly) (NGS panel of 66 genes)
Macrosomic syndromes (WES based NGS panel of 35 genes, including CNV analysis)
Epilepsy (WES based NGS panel for 597 genes, including CNV analysis)
Hypoglycemia (WES based NGS panel of 62 genes, including CNV analysis)