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Malformations of cortical development (lissencephaly, periventricular nodular heterotopia, polymicrogyria, megalencephaly-polymicrogyria and dysplastic megalencephaly) (NGS panel of 66 genes)
ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, BMPER, CCND2, CDK5, CHD7, COL18A1, DCHS1, DCX, DEPDC5, DYNC1H1, EML1, EOMES, ERMARD, EZH2, FAT4, FH, FIG4, FKTN, FLNA, FMR1, GPSM2, KATNB1, KIF1BP, KIF2A, KIF5C, LAMB1, LAMC3, LRP2, MTOR, NDE1, NEDD4L, NPRL3, NSDHL
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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)

- 45

Specialties

- Rare diseases, Neurology / Neuropediatrics, Obstetrics / Gynecology /PND, Pediatrics


CGC Reference

- 5472




Associated Tests


Microcephaly and pontocerebellar hypoplasia (NGS panel for 53 genes)
Mental retardation, X-linked (NGS panel for 89 genes)
Macrosomic syndromes (WES based NGS panel of 35 genes, including CNV analysis)
X-linked mental retardation (deletion/duplication analysis, multiple genes)
Clefting (WES based panel for 230 genes, including CNV analysis)