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Cystic Fibrosis Screen
Test Code10458
CPT Codes
81220
Preferred Specimen
4 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Other Acceptable Specimens
Whole blood collected in: sodium heparin (green-top), or acid citrate dextrose ACD-A or B (yellow-top) tube • Minimum 2 mL saliva collected in an Oragene DNA Self-Collection kit
Instructions
Please indicate the ethnicity of the patient.
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
For prenatal diagnosis, please use test Cystic Fibrosis DNA Analysis, Fetus.
Saliva: Rinse mouth, spit into collection tube until liquid phase reaches mark, seal with cap, replace funnel with small cap. See package insert. Store and ship room temperature. Do not freeze. The Oragene reagent is released from the cap. The reagent stabilizes/releases DNA from saliva.
For Genetic Testing, original tube required. Aliquots for other testing from original tube are permitted, if performed without cross contamination of samples and using sterile techniques. Rinse mouth prior to spitting.
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
For prenatal diagnosis, please use test Cystic Fibrosis DNA Analysis, Fetus.
Saliva: Rinse mouth, spit into collection tube until liquid phase reaches mark, seal with cap, replace funnel with small cap. See package insert. Store and ship room temperature. Do not freeze. The Oragene reagent is released from the cap. The reagent stabilizes/releases DNA from saliva.
For Genetic Testing, original tube required. Aliquots for other testing from original tube are permitted, if performed without cross contamination of samples and using sterile techniques. Rinse mouth prior to spitting.
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Saliva
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Call lab
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Saliva
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Call lab
Methodology
Multiplex Polymerase Chain Reaction • Massively Parallel Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Daily; Report available: 8 days
Limitations
Approximately 18% of affected Caucasian individuals have only one detectable mutation and 1% have no detectable mutations when using this screen.
Reference Range
See Laboratory Report
Clinical Significance
General screen for carrier status and assessment of CF risk. This test will identify approximately 90% of Cystic Fibrosis (CF) mutations in the Caucasian population, and 97% in the Ashkenazi Jewish population.
