Diagnostic Test Directory

Molecular Genetics Laboratory

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Alpha Thalassemia (HBA1 and HBA2 Sequence Analysis)

  • Synonyms: Alpha globin gene sequence analysis
  • LIS Mnemonic: MBALPHASEQ

    Collect

    Collect whole blood in a purple top (EDTA) tube. May send extracted DNA instead.

    Volume Required

    5ml whole blood or 1 ug of DNA

    Minimum Required

    3ml

    Transport

    Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.

    Stability

    Whole blood can be refrigerated until shipment.

    Unacceptable conditions

    Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.

    Specimen Handling

    Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.

Days Performed

Mon - Fri 9:00am to 4:00pm

Reported

2-3 weeks

CPT

81405

Disease Information

Clinical Features:

Autosomal recessive disease caused by deletion or inactivation of one or multiple alpha globin genes. Alpha thalassemia results in anemia, the severity of which depends upon the number of genes that are affected.

Test Methods:

DNA sequence analysis of the alpha 2 globin gene.

Detection Rate:

The analytical sensitivity is close to 100% for point mutations by DNA sequencing.

Utility:

Confirmation of diagnosis, carrier detection, prenatal diagnosis

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