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TREACHER-COLLINS SYNDROME , NEXT-GENERATION SEQUENCING (NGS) TCOF1, POLR1C AND POLR1D GENES

Test Code

76103

Gene/s
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3 genes

Specific Gene

POLR1C, POLR1D, TCOF1

Analysis Methods

Massive sequencing data analysis (NGS)

Sample Requirements

5 mL whole blood (EDTA). Necessary clinical and family history.

TAT

30 days

Omim G

606847/610060/613715

Omim F

154500/248390/613717

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