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Clefting (WES based NGS panel of 231 genes, including CNV analysis)
ACTB, ACTG1, ALG9, ALX3, AMER1, ANKRD11, ARCN1, ARHGAP29, ARHGAP31, ASXL1, ATR, ATRX, B3GALT6, B3GAT3, B3GLCT, B4GALT7, BCOR, BMP4, BUB1B, C2CD3, C5orf42, CANT1, CASK, CC2D2A, CDC45, CDH1, CDKN1C, CHD7, CHRNG, CHST14, CHSY1, CKAP2L, COL11A1, COL11A2, COL2
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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


CGC Reference

- 5734




Associated Tests


Skeletal Dysplasia (WES based NGS panel of 531 genes, including CNV analysis, including CNV analysis)
Syndromes with short stature (WES based NGS panel of 100 genes, including CNV analysis)
Ehlers-Danlos, Marfan and Loeys-Dietz syndromes, aortic aneurysm and differential diagnosis (WES based NGS panel of 77 genes, including CNV analysis)
Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis)
Spondylometaphyseal dysplasia (NGS panel of 27 genes)