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Institute of Metabolic Disease at Baylor Research Institute
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Mitochondrial Beta Oxidation Defects
This test is the preferred and most commonly performed in-vitro probe assay. The test aids in the diagnosis of a wide array of inborn errors of metabolism, primarily mitochondrial fatty acid oxidation disorders such as:
• Carnitine Palmitoyltransferase Type I (CPT I)
• Carnitine palmitoyltransferase Type II (CPT-II)
• Carnitine/acylcarnitine translocase (CACT or Translocase)
• Very-long-chain acyl-CoA dehydrogenase (VLCAD)
• Mitochondrial Trifunctional protein (MTP or TFP)
• Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)
• Electron transfer flavoprotein dehydrogenase (ETF-DH; ETF-QO; MADD; GA II)
• Medium-chain acyl-CoA dehydrogenase (MCAD)
• Short-chain acyl-CoA dehydrogenase (SCAD)
Utilizing several different probes, this test assists in distinguishing:
1. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) from mitochondrial trifunctional protein deficiency (MTP)
2. Carnitine palmitoyltransferase II deficiency (CPTII) from Carnitine-acylcarnitine translocase deficiency (CACT)
3. Different phenotypes of very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) - cardiomyopathy versus hypoglycemic
Frequently, this test is performed after an acylcarnitine profile has shown evidence for a defect in fatty acid oxidation.
Additionally, the test can also aid in the diagnosis of branched chain amino acid disorders such as Isobutyryl-CoA Dehydrogenase Deficiency (IBCD), Isovaleric Acidemia (IVA) and S-2-methylbutyryl-CoA dehydrogenase. Please see our Research Tests section for further information.
For more information about this test, see the following publications:
• Roe, D.S., Yang, B.Z., Vianey-Saban, C., Struys, E., Sweetman, L., and Roe, C.R. Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. Molecular Genetics and Metabolism 87, 40-47 (2006)
• Roe, C.R. and Roe, D.S. Recent Developments in the Investigation of Inherited Metabolic Disorders Using Cultured Human Cells. Molecular Genetics and Metabolism 68, 243-357 (1999)
Download Test Requisition
Department: Tissue Culture
Methodology: Incubation of intact fibroblasts with d3-palmitic acid and L-carnitine followed by MS/MS acylcarnitine analysis.
Sample:
• Fibroblasts - 2 sub-confluent T-25 flasks filled with medium supplemented with serum.
• Amniocytes - This prenatal research test must be approved by the IMD Medical Director. Please contact the IMD Medical Director for information.
Shipping:
• Send all sample types at room temperature. Package samples carefully to avoid breaking or freezing.
• Using indelible ink, flasks must be labeled with the patient's name, culture date and passage number.
• Samples should be shipped using a guaranteed overnight courier. Ship samples only Monday through Wednesday to ensure receipt.
Handling:
• Do not send mycoplasma positive cells. Mycoplasma testing is performed on all incoming cell lines. Cell lines known to be positive for mycoplasma will not be accepted.
• Wrap the neck of the flask with parafilm or foil to prevent contamination and leakage.
Special Notes:
All patient samples should be accompanied by a completed IMD test requisition. The patient's clinical history or summary and previous laboratory results should be provided, as well as the ordering physician's name, phone and fax number.
Turnaround time: 2-4 weeks from sample receipt
Cost: $750.00
CPT code: 83789, 88233, 84157
Related tests: Acylcarnitine Profile, Urine Organic Acids |
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