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Alpha-Globin Common Mutation Analysis : 11175
Message**This test is not available for New York patient testing.**
Test Code
ALGLMQ or 11175
Alias/See Also
Alpha-Globin DNA Analysis; Hemoglobin Barts Hydrops Fetalis; Thalassemia; Hemoglobin H Disease; Alpha Thalassemia Trait; Alpha-Thalassemia
CPT Codes
81257
Instructions
Lavender (EDTA), green (no gel) (sodium heparin), yellow (ACD Solution A or B), or royal blue (EDTA).
Transport Container
Transport 5 mL whole blood, (Min: 3 mL).
Transport Temperature
Refrigerated.
Specimen Stability
Ambient: 7 days; Refrigerated: 7 days; Frozen: Unacceptable
Methodology
Polymerase Chain Reaction
Setup Schedule
Sunday
Report Available
7-14 days (From receipt at performing laboratory)
Limitations
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.
Reference Range
By 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
