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MECKEL SYNDROME , NEXT-GENERATION SEQUENCING (NGS) 11 GENES

Test Code

55252

Gene/s
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11 genes

Specific Gene

B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM216, TMEM231, TMEM67

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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