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SHORT STATURE SYNDROME AND RELATED DISORDERS , NEXT-GENERATION SEQUENCING (NGS) 89 GENES

Test Code

73413

Gene/s
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89 genes

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, G

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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