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OVERGROWTH AND MACROCEPHALY RELATED SYNDROMES , NEXT-GENERATION SEQUENCING (NGS) 16 GENE

Test Code

70120

Gene/s
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16 genes

Specific Gene

CDKN1C, CUL4B, DIS3L2, DNMT3A, GLI3, GPC3, GPC4, HRAS, MED12, NFIX, NSD1, PHF6, PTCH1, PTEN, RNF135, UPF3B

Analysis Methods

Massive sequencing data analysis (NGS)

Sample Requirements

5 mL whole blood (EDTA). It´s necessary to send us the clinical and family history.

TAT

30 days

Omim G

Omim F

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