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SHORT STATURE SYNDROME AND RELATED DISORDERS , PANEL MASSIVE SEQUENCING (NGS) 86 GENES
| Test Code |
73413 |
|---|---|
| Gene/s |
See all genes  Hide all genes  86 gens |
| Specific Gene |
ACAN, ACTB, ACTG1, ATR, B3GAT3, BCS1L, BRAF, BTK, CBL, CCDC8, CDC6, CDT1, CENPJ, CEP152, CEP63, COL10A1, COL11A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DHCR7, EP300, FGD1, FGFR3, GH1, GHR, GHRHR, GLI2, GNAS, HDAC8, HESX1, HRAS, HSPG2, IGF1, IGF1R, IGFALS, INSR, IRS1, KRAS, LARP7, LHX3, LHX4, LZTR1, MAP2K1, MAP2K2, MATN3, NIPBL, NOTCH2, NPR2, NRAS, OBSL1, ORC1, ORC4, ORC6, OTX2, PCNT, PITX2, POC1A, POU1F1, PROP1, PTPN11, RAD21, RAF1, RASA2, RBBP8, RIT1, RNU4ATAC, RRAS, RTTN, SHOC2, SHOX, SMC1A, SMC3, SOS1, SOX2, SOX3, SRCAP, STAT5B, TBX19, TBX3, TRIM37, XRCC4 |
| Analysis Methods |
Massive sequencing data analysis (NGS) |
| Sample Requirements |
5 mL whole blood (EDTA). Necessary clinical and family history. |
| TAT |
30 days |
| Omim G |
– |
| Omim F |
– |
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