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Genetic syndromes with skeletal involvement (NGS panel of 38 genes)
ATR, CCDC8, CDC6, CDKN1C, CDT1, CENPJ, CEP152, CEP63, CREBBP, CUL7, DNA2, EP300, ESCO2, FAM111A, FAM58A, FGF10, FGF9, FGFR2, FGFR3, GDF3, GDF6, LARP7, LMX1B, MEOX1, MGP, NIN, OBSL1, ORC1, ORC4, ORC6, PCNT, POC1A, RBBP8, RECQL4, SALL1, SALL4, SF3B4, SH3PXD
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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)

- 45

Specialties

- Rare diseases, Pediatrics, Dysmorphology


CGC Reference

- 4804




Associated Tests


Syndromes with short stature (WES based NGS panel of 100 genes, including CNV analysis)
Seckel syndrome (NGS panel of 11 genes)
Microcephaly and pontocerebellar hypoplasia (NGS panel for 53 genes)
Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis)
Klippel-Feil syndrome (NGS panel of 5 genes)