Galactosemia Gene Analysis (14 mutation)

• CPT Code: 81401
• LOINC:
• Specimen Type: EDTA
• Frequency: Setup: Varies; Analytic time 6 days
• Instructions: 3mL whold blood in lavender top tube. Send original vacutainer. Min 0.5mL. Ambient. Must arrive within 96 hrs of draw. Alt ACD tube.
• Text: Useful For: Second-tier test for confirming a diagnosis of galactosemia (indicated by enzymatic testing or newborn screening); Carrier testing family members of an affected individual of known genotype (has mutations included in the panel); Resolution of Duarte variant and LA variant genotypes.
• Methodology: Multiplex polymerase chain reaction (PCR)-based assay utilizing the Sequenom MassARRAY System.