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CONGENITAL DISORDERS OF GLYCOSYLATION , PANEL MASSIVE SEQUENCING (NGS) 46 GENES

Test Code

35302

Gene/s
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46 gens

Specific Gene

ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, GNE, LARGE, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PGM1, PMM2, RFT1, SEC23B, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3

Analysis Methods

Massive sequencing data analysis (NGS)

Sample Requirements

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

TAT

30 days

Omim G

Omim F

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