Genetic TestsPropionicacidemia Genetic Test (PCCA, PCCB Genes)

• Test Name: Propionicacidemia Genetic Test (PCCA, PCCB Genes)
• Test Code: 2236

• Propionicacidemia (OMIM #: 606054) || Gene: PCCA (OMIM #: 232000) || Gene: PCCB (OMIM #: 232050)

• “Propionyl-CoA Carboxylase, Alpha Subunit”
• “Propionyl-CoA Carboxylase, Beta Subunit”

• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 2-3 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