Test Directory
5401 Cystic Fibrosis (CF) Carrier Screening
Specimen Type
Specimen Stability
Reference Range
Whole blood-Lavender top tube
8 days 2-8° C
See Report
Specimen Requirements
Preferred amount: Full tube of Whole Blood
Minimum amount: 3.0 mL whole blood
Minimum amount: 3.0 mL whole blood
Method
Polymerase Chain Reaction (PCR)
Schedule
Mon-Fri
Turn-Around Time
3-5 days
Instructions/Notes
Special instructions: Provide patient’s ethnicity and specific family history of CF by completing the Cystic Fibrosis (CF) Patient Information Form and attaching it to the test requisition.
Clinical Utility
Carrier Study:
• 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.
Diagnostic Study:
• 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)
CPT Codes
Multiple
