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CFvantage® Cystic Fibrosis Expanded Screen : 92068
Test CodeCFVANQ or 92068
Alias/See Also
CF Mutation Screen; CFTR Expanded Mutation Screen; CF155 Mutations; Cystic Fibrosis Mutation Screen; CFTR Screen; CF Carrier Screen; CF Expanded Mutation Carrier Screen; Cystic Fibrosis Expanded Panel; Cystic Fibrosis Carrier Screen
CPT Codes
81220
Includes
This assay detects 155 CF mutations, including the twenty-three core mutations recommended by the American College of Medical Genetics (ACMG). Refer to report.
Instructions
Preferred: whole blood in EDTA (lavender-top) tube
Alternate: whole blood in ACD (yellow-top) or sodium heparin (green-top) tube
Alternate: whole blood in ACD (yellow-top) or sodium heparin (green-top) tube
Transport Container
Transport 5 mL whole blood (Minimum 3 mL); Indicate the ethnicity of the patient.
Transport Temperature
Refrigerated.
Specimen Stability
Room temperature: 7 days; Refrigerated: 14 days; Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen.
Methodology
Multiplex PCR, Next Generation Sequencing
Setup Schedule
Sunday - Saturday
Report Available
7 days (From receipt at performing laboratory)
Limitations
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Reference Range
See Laboratory Report
Clinical Significance
The CFvantage® Cystic Fibrosis Expanded Screen analyzes an expanded number of variants that have been proven to cause Cystic Fibrosis (CF). This panel includes the 23 variants recommended by the American College of Obstetricians and Gynecologists (ACOG) for screening of all women of childbearing age. ACOG also recommends that patients with a personal or family history of CF be offered screening.
Performing Laboratory
Quest Diagnostics