my CGC
< Back to results
 
Macrosomic syndromes (WES based NGS panel for 33 genes, including CNV analysis)
AKT1, AKT2, AKT3, ASXL2, BRWD3, CCND2, CDKN1C, CHD8, DNMT3A, EED, EZH2, GPC3, HERC1, HIST1H1E, HRAS, IGF2, KLLN, KRAS, MTOR, NFIX, NRAS, NSD1, OFD1, PIK3CA, PIK3R2, PPP2R5D, PTEN, RASA1, SDHB, SDHD, SEC23B, SOST, TBC1D7
Request Now


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


CGC Reference

- 4932




Associated Tests


Macrocephaly (NGS panel for 16 genes)
Hereditary non medullary thyroid carcinoma (WES based NGS panel of 26 genes, including CNV analysis)
Malformations of cortical development (lissencephaly, periventricular nodular heterotopia, polymicrogyria, megalencephaly-polymicrogyria and dysplastic megalencephaly) (NGS panel of 66 genes)
OncoRisk (NGS panel for 48 genes, including CNV analysis)
Noonan Syndrome and other genetically related Syndromes (NGS panel for 9 genes, PND)