Genetic TestsCystic Fibrosis CFTR Delta F508 Mutation

• Test Name: Cystic Fibrosis CFTR Delta F508 Mutation
• Test Code: 2671

• Congenital bilateral absence of vas deferens (CBAVD) (OMIM #: 277180) || Gene: CFTR (OMIM #: 602421)
• Cystic fibrosis (OMIM #: 219700)
• Sweat chloride elevation without CF

• “ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 7; ABCC7”

• Methodology: Strip Test
• Performed: Everyday
• Reported: 2 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Reproductive Genetics