Test Name & Code:
• Test Name: Fatty Acid Oxidation Disorders Gene Panel
• Test Code: 4695
• Test Code: 4695
Related Diseases & Genes:
• “Short-chain acyl-CoA dehydrogenase (SCAD) deficiency, Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, Trifunctional protein deficiency, Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency,Iinfantile Carnitine palmitoyl transferase deficiency type II (CPT-II), Lethal Neonatal Carnitine palmitoyl transferase deficiency type II (CPT-II),Myopatic Carnitine palmitoyl transferase deficiency type II (CPT-II), Carnitine-acylcarnitine translocase (CACT) deficiency, 2-Methylbutyryl-CoA dehydrogenase (SBCAD) deficiency, Isobutyryl-CoA dehydrogenase (IBD) deficiency” (OMIM #: 201470 201450 609016 609015 609015 201475 600649 608836 255110 212138 610006 611283)|| Gene: “ACADS, ACADM, HADHA, HADHB, ACADVL, CPT2, CACT, ACADSB, ACAD8” (OMIM #: )
Synonyms:
-none-
Test Details:
• Methodology: Next Generation DNA Sequencing
• Performed: Everyday
• Reported: 6 weeks
• Performed: Everyday
• Reported: 6 weeks
Specimen Details:
• 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
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Inborn Errors of Metabolism