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Macrocephaly (NGS panel for 16 genes)
AKT3, ASPA, DHCR24, EZH2, GFAP, GPC3, HEPACAM, MED12, MLC1, NFIX, NSD1, PIGA, PIGN, PIK3CA, PIK3R2, PTEN
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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, Dysmorphology


CGC Reference

- 3275




Associated Tests


Macrosomic syndromes (WES based NGS panel of 35 genes, including CNV analysis)
Sotos syndrome (deletion/duplication analysis on NSD1 and NFIX genes)
OncoRisk (NGS panel for 48 genes, including CNV analysis)
Wilms tumor (WES based NGS panel of 15 genes, including CNV analysis)
Hereditary non medullary thyroid carcinoma (WES based NGS panel of 26 genes, including CNV analysis)