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Beta-2-Adrenergic Receptor (ADBR2) Haplotyping (INACTIVE as of 04/04/16)
0051288
Ordering Recommendation
Mnemonic
ADRB2 HAP
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Mon, Thu
Reported
2-7 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Beta-2-Adrenergic Receptor (ADRB2) Haplotyping:
Characteristics:
The ADRB2 gene encodes for the beta-2-adrenergic receptors expressed on many cell types including cells of the airways, the vascular and immune systems, and fat cells. Binding and release of epinephrine and norepinephrine, the natural ligands on the receptor, regulates cardiac, pulmonary, vascular, immunologic, and metabolic functions. The beta-2-adrenergic receptors are the targets of beta-agonists drugs. ADRB2 appears to be one of the multiple genetic players in asthma, vascular disease, obesity and drug response.
Genetics:
At least twelve haplotypes of the ADRB2 gene have been described using 13 polymorphic sites. The three haplotypes (Gly16-Glu27, Arg16-Gln27 and Gly16-Gln27) are the most common. Arg16 and Gln27 are in strong linkage disequilibrium. Arg16 has been found associated with Glu27 in less than 0.5 percent of chromosomes.
Mutations Tested:
Arg16Gly (c.46A>G), Gln27Glu (c.79C>G) and the three main haplotypes Gly16-Glu27, Arg16-Gln27, and Gly16-Gln27.
Methodology:
PCR and fluorescence analysis by haplotyping hybridization probes. In addition to genotyping each mutation tested, this test directly establishes the haplotype (whether or not the two mutations are found on the same or different chromosomes).
Limitations:
Mutations and haplotypes situated outside of the studied area of the gene are not analyzed. Other and non-described mutations and haplotypes can be revealed by the assay. Medical significance of the polymorphisms and their haplotypes in the different diseases (asthma, obesity, hypertension, and drug response) are continually being investigated. Diagnostic errors can occur due to rare sequence variations.
Analytical Sensitivity:
The assay determines the haplotypes of approximately 99 percent of chromosomes.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81401
Components
Component Test Code*Component Chart NameLOINC
0051289Beta-2-Adrenergic Receptor Haplotyping
2001291Beta-2-Adrenergic Receptor Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases