Alpha-Globin Gene Deletion or Duplication

The Alpha-Globin Gene Deletion or Duplication test contains 1 test with 1 biomarker.

Clinical Significance

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.

Methodology

Capillary Electrophoresis • Multiplex PCR

Limitations

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).

Alternative Name(s)

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

The following is a list of what is included in the item above. Click the test(s) below to view what biomarkers are measured along with an explanation of what the biomarker is measuring.

Also known as: AlphaGlobin Gene Deletion Or Duplication

Alpha-Globin Gene

*Process times are an estimate and are not guaranteed. The lab may need additional time due to weather, holidays, confirmation/repeat testing, or equipment maintenance.