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Cystic Fibrosis Gene Deletion or Duplication
Test Code16080
CPT Codes
81222
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top or royal blue-top), sodium heparin (green-top), or ACD (yellow-top) tube
Minimum Volume
3 mL
Instructions
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Provide family history. Provide clinical information (sweat chloride test, IRT, age, other CFTR mutations detected, ethnicity).
For other sample types please contact the laboratory.
Provide family history. Provide clinical information (sweat chloride test, IRT, age, other CFTR mutations detected, ethnicity).
For other sample types please contact the laboratory.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Refrigerated: 14 days
Frozen: Unacceptable
Methodology
Next Generation 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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Tues; Report available: 2-3 weeks following set up
Clinical Significance
This test detects large deletion or duplication copy number variants in the CFTR gene in CF patients or patients with the potential diagnosis of CF where only one or no pathogenic variant has been identified.
