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CONGENITAL MYOPATHIES , NEXT-GENERATION SEQUENCING (NGS) 65 GENES

Test Code

54965

Gene/s
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65 genes

Specific Gene

ACTA1, ACTN2, BIN1, CACNA1S, CASQ1, CCDC78, CFL2, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, DNM2, DOK7, DYSF, ECEL1, EPG5, FHL1, FKBP14, FLNC, HACD1, KBTBD13, KLHL40, KLHL41, LAMP2, LMNA, LMOD3, MAP3K2

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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