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Alpha Globin Gene Analysis

Alpha Globin Genotype, Alpha Thal, Alpha Thalassemia

Instructions

This test is not included in the Beaumont Laboratory testing formulary, however, the Laboratory can facilitate specimen collection.

• This test requires pathology review. Contact the Sendout Laboratory at 248-551-9045 before ordering this test.
• Testing requires the ordering physician to complete forms for the independent clinical laboratory performing the testing.
• This test will be billed to the patient's insurance. If not covered by insurance, the patient is responsible for the full cost of testing.
• Specimens received without the appropriate forms and information will not be shipped.
• Once approved, order test as a Miscellaneous Sendout (XMISC).
• This test is usually performed after hemoglobin electrophoresis and measurement of HbA₂ to rule out beta-thalassemia.
• Please call the Sendout Laboratory before collecting an amniotic fluid specimen. All amniotic fluid specimens must be accompanied by a maternal blood specimen. This is necessary for maternal cell contamination testing. Obtain specimen during 14th - 17th week of gestation.

Specimen Collection Criteria

Blood: Two (2) Lavender-top EDTA tube. (Minimum: 3.0 mL)

Rejection Criteria

Specimens not collected or processed as indicated.

In-Lab Processing

Deliver specimens to the Laboratory immediately after collection. Maintain blood specimens at room temperature (20-26°C or 68-78.8°F) or amniotic fluid specimens refrigerated (2-8°C or 36-46°F) until transport.

Transport: 7.0 mL whole blood, at room temperature (20-26°C or 68-78.8°F), or 10.0 mL amniotic fluid, refrigerated (2-8°C or 36-46°F). (Minimum: 3.0 mL whole blood or 5.0 mL amniotic fluid.) 

Laboratory

Sent to ILabCorp Integrated Genetic, Westbourough, MA.

Performed

Results available in 10-14 days.

Reference Range

By report.

Test Methodology

Dosage Analysis by Polymerase Chain Reaction (PCR)/Multiplex Ligation-Dependent Probe Amplification (MLPA)/Luminex Technology.

Interpretation

By report.

Hemoglobin electrophoresis should usually be done prior to this test to exclude other diagnoses or to identify non-deletion types of alpha-thalassemia.

This test is not useful for diagnosis/confirmation of beta-thalassemia or hemoglobinopathies.

Clinical Disease

Alpha-thalassemia occurs in all ethnic groups but is especially common in African Americans (30%) and in Southeast Asians (at least 25%). It is also found frequently in individuals of Mid-Eastern and Indian ancestry. While deletion type of alpha-thalassemia is much more common, both non-delection type and deletion type have been described in each affected population.

Alpha-thalassemia is caused by decreased synthesis of alpha-globin chains. Four alpha-globin genes are normally present (two on each chromosome 16). One, two, three, or four alpha-globin genes may be deleted or contain mutations in patients with alpha-thalassemia, with more than 30 alpha-haplotypes having been described. Phenotypically, these result in four categories of disease expression:

1. Deletion of one alpha-chain results in a normal phenotype (i.e. no CBC abnormalities). 
2. Alpha-thalassemia minor, with mild hematologic changes, but no major clinical difficulties, occurs with deletion of two alpha genes. 
3. Hemoglobin H disease, which is extremely variable but usually includes anemia due to hemolysis, jaundice, and hepatosplenomegaly (deletion of three alpha genes) 
4. Hydrops fetalis with deletion of all four alpha-globin genes variably results in utero demise.

CPT Codes

81257

Contacts

Last Updated

4/10/2021