Test Name & Code:
• Test Name: Carnitine Palmitoyltransferase II Deficiency
• Test Code: 4788
• Test Code: 4788
Related Diseases & Genes:
• “CPT deficiency, hepatic, type II” (OMIM #: 600649) || Gene: CPT2 (OMIM #: 600650)
• “CPT II deficiency, lethal neonatal” (OMIM #: 608836)
• Myopathy due to CPT II deficiency (OMIM #: 255110)
• “Encephalopathy, acute, infection-induced, 4, susceptibility to” (OMIM #: 614212)
• “CPT II deficiency, lethal neonatal” (OMIM #: 608836)
• Myopathy due to CPT II deficiency (OMIM #: 255110)
• “Encephalopathy, acute, infection-induced, 4, susceptibility to” (OMIM #: 614212)
Synonyms:
• CARNITINE PALMITOYLTRANSFERASE II
• CPT II
• CPT II
Test Details:
• Methodology: Next Generation DNA Sequencing
• Performed: Everyday
• Reported: 4 weeks
• Performed: Everyday
• Reported: 4 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
