Specimen Type: Whole Blood
Container: 1 Lavender Top Tube
Preferred Vol: 2.00 mL
Min Vol: 2.00 mL
Polymerase Chain Reaction (PCR)
Preferred amount: Full tube of Whole Blood
• Assessment of carrier risk for an individual with a positive family history of CF
• Assessment of carrier risk for an individual whose partner has a positive family history of CF
• Assessment of carrier risk for an individual with a negative family history who is planning a pregnancy.
Note: A negative mutation analysis is indicative of reduced carrier risk based upon the presence or absence of specific associated genetic mutations in the CF40 test, but does not exclude the possibility that the patient is a carrier.
• Screening for CF in a newborn with a positive immunoreactive trypsinogen test (IRT)
• Diagnosis of CF in a symptomatic newborn
• Identification of familial mutation in an affected patient
• Identification of mutations in an infertile male with congenital bilateral absence of the vas deferens (CBAVD)
81220, 83891, 83896, 83900, 83901, 83903, 83908, 83912