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DIASTROPHIC DYSPLASIA , MUTATIONS IVS1+2T>2C, p.Arg178X, p.Arg279Trp, p.Val340del, p.Cys653Ser SLC26A2 GENE

Test Code

20232

Gene/s
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Analysis Methods

Molecular hybridization (PCR)

Sample Requirements

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

TAT

20 days

Omim G

606718

Omim F

222600

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