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Disease Name: Mitochondrial complex I deficiency due to ACAD9 deficiency, Acyl-CoA dehydrogenase family, member 9, deficiency of
Genes Covered:ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CAT, CPT1A, CPT2, DNM1L, GNPAT, HADH, HADHA, HADHB, HMGCL, HSD17B10, HSD17B4, LPIN1, MFF, MLYCD, OXCT1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SLC22A5, SLC25A20, TAZ, TRIM37
Panel: Strand Inborn Errors of Metabolism Test
Disorder Category: Fatty acid and peroxisomal disorders
Turnaround Time: 5-6 weeks from receipt of sample in the lab