| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Alpha-Globin Common Mutation Analysis
Test Code11175
CPT Codes
81257<br><strong>This code is not available for New York patient testing. For New York patient testing, use test Code 11174.</strong>
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
Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top), lithium heparin (green-top), ACD-B (yellow-top), or ACD-A (yellow-top) tube
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 30 days
Refrigerated: 30 days
Frozen: 30 days
Refrigerated: 30 days
Frozen: 30 days
Methodology
Polymerase Chain Reaction (PCR)
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: Sun; Report available: 8-15 days
Reference Range
See Laboratory Report
Clinical Significance
Alpha thalassemia is an inherited blood disorder characterized by a reduced or absent production of alpha globin. The majority of people who have alpha thalassemia trait or disease will have deletions of any number of the 4 alpha globin genes.
This test identifies the 7 most common deletions in the alpha globin genes. The vast majority of individuals who have an alpha globin deletion (or deletions) will be identified with this test. It is the recommended first tier genetic test for confirmation of suspected alpha thalassemia or alpha thalassemia trait. This would include couples who are pregnant or anticipating pregnancy and who have been identified as at risk via an abnormal hemoglobinopathy evaluation (CBC and HPLC).
In the event of an alpha globin variant identified on HPLC, the recommended first tier test would be alpha globin gene sequencing.
This test identifies the 7 most common deletions in the alpha globin genes. The vast majority of individuals who have an alpha globin deletion (or deletions) will be identified with this test. It is the recommended first tier genetic test for confirmation of suspected alpha thalassemia or alpha thalassemia trait. This would include couples who are pregnant or anticipating pregnancy and who have been identified as at risk via an abnormal hemoglobinopathy evaluation (CBC and HPLC).
In the event of an alpha globin variant identified on HPLC, the recommended first tier test would be alpha globin gene sequencing.
Performing Laboratory
| Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
| 33608 Ortega Highway |
| San Juan Capistrano, CA 92675-2042 |
