Genetic TestsPeroxisomal Disorders Gene Panel

• Test Name: Peroxisomal Disorders Gene Panel
• Test Code: 4694

• “X-linked adrenoleukodystrophy, Zellweger; peroxisome biogenesis disorder Type 1A, 2A,2B,3A,3B,4A,4B,5A,5B,6B,7A,7B,8A,8B,9B,10A,11A,11B,12A,13A,14B, D-bifunctional enzyme deficiency; Perrault syndrome, Refsum disease, Rhizomelic chondrodysplasia punctate, type 1,2,3,5, Acatalasemia, Acyl-CoA oxidase deficiency, Adrenoleukodystrophy-like/related, Alpha-methylacyl-CoA racemase deficiency, Glutaric aciduria III, Heimler syndrome III, Congenital bile acid synthesis defect-4 and 5, Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission, Leukoencephalopathy with dystonia and motor neuropathy, Mulibrey nanism” (OMIM #: 300100 214100 214110 202370 614859 266510 614862 614863 614866 614867 614871 614872 614873 614876 614877 614879 614882 614883 614885 614886 614887 614920 261515 233400 266500 215100 222765 600121 616716 614097 264470 601081 614307 231690 616617 214950 616278 614388 613724 253250)|| Gene: “ABCD1, ABCD2, ABCD3, ACOX1, ACOX3, AGPS, AMACR, CAT, DNM1L, ECH1, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SUGCT, TRIM37”

• Methodology: Next Generation DNA Sequencing
• Performed: Everyday
• Reported: 6 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Inborn Errors of Metabolism