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ULLRICH CONGENITAL MUSCULAR DYSTROPHY , NEXT-GENERATION SEQUENCING (NGS) COL6A1,COL6A2,COL6A3 GENES

Test Code

20198

Gene/s
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4 genes

Specific Gene

COL12A1, COL6A1, COL6A2, COL6A3

Analysis Methods

Massive sequencing data analysis (NGS)

Sample Requirements

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

TAT

30 days

Omim G

120220/120240/120250/120320

Omim F

254090/616470

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