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Disease Name: Pyridoxamine 5'-phosphate oxidase deficiency
Genes Covered:ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1
Panel: Strand Inborn Errors of Metabolism Test
Disorder Category: Disorders of vitamins and co-factor metabolism
Turnaround Time: 5-6 weeks from receipt of sample in the lab