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Disease Name: Bile acid synthesis defect
Genes Covered:ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR7, EBP, FGFR2, HSD3B7, LBR, MSMO1, MVK, NR1H4, NSDHL, POR, SC5D, SLC10A2, STS, TJP2, UGT1A1
Panel: Strand Inborn Errors of Metabolism Test
Disorder Category: Disorders of the metabolism of sterols
Turnaround Time: 5-6 weeks from receipt of sample in the lab