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EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA (EBSPA & JEBPA) , NEXT-GENERATION SEQUENCING (NGS) ITGB4, ITGA6, PLEC GENES

Test Code

25049

Gene/s
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3 genes

Specific Gene

ITGA6, ITGB4, PLEC

Analysis Methods

Massive sequencing data analysis (NGS)

Sample Requirements

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

TAT

30 days

Omim G

601282/147557/147556

Omim F

612138/226730

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