Alpha-Globin Gene Deletion or Duplication : 16124

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ALGLDQ or 16124

Hydrops Fetalis, Alpha-Globin Rare Deletion/Duplication, Hemoglobin Barts Hydrops Fetalis, Alpha-Globin Gene Triplication, Alpha-Globin Gene Number, Hemoglobin H Disease, Alpha-Thalassemia

Lavender (EDTA), green (no gel) sodium heparin, or yellow (ACD Solution B).

Transport 5 mL whole blood, (Min: 3 mL).

Refrigerated.

Ambient: 30 days; Refrigerated: 30 days; Frozen: 30 days

Lithium heparin.

Tuesday

2-3 weeks (From receipt at performing laboratory)

This test does not identify whether a two-gene deletion is in cis (on the same chromosome) or trans (on opposite chromosomes). In the absence of a coexisting deletion on the opposite chromosome, this test can identify the presence of an extra alpha globin gene (alpha triplication).

This test was developed and its performance characteristics have been determined by Quest Diagnostics. Performance characteristics refer to the analytical performance of the test.

By report.

This test can be used to detect the presence or absence of large deletions in the HBA1 or HBA2 gene in patients or their family members suspected of having alpha thalassemia or who are carriers of alpha globin deletions. The assay can also be used in the prenatal diagnosis of alpha thalassemia. The assay does not determine the type or breakpoint of the rearrangement. This assay can be used instead of southern blot analysis to determine the total number of intact alpha globin genes.