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Beta-2-Adrenergic Receptor Mutations
Test Code16176X
CPT Codes
81401<br />
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) tube
Minimum Volume
3 mL
Other Acceptable Specimens
ACD solution A or B (yellow-top) tube • Lithium heparin (green-top) tube • Sodium heparin (green-top) tube
Instructions
Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Refrigerated: 8 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen
Methodology
Polymerase Chain Reaction (PCR) • Single Nucleotide Primer Extension
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: Thurs; Report available: 7 days
Limitations
This assay does not test for the presence of mutations in other regions of the ADRB2 gene that could contribute to drug response or disease. In addition, this assay does not test for non-genetic causes of drug response or disease. Some individuals with poor response to these drugs, or respiratory disease, may have other chromosomal or DNA abnormalities not detected by this test.
Clinical Significance
This test detects two polymorphisms in the beta-2 adrenergic receptor (ADRB2) gene: Gly16Arg and Gln27Glu, which have been shown to correlate with the phenotype of bronchodilator responsiveness in asthma.
