Diagnostic Test Directory

Molecular Genetics Laboratory

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Alpha Thalassemia (HBA1 and HBA2 Deletion Analysis)

  • Synonyms: Alpha globin gene deletion analysis
  • LIS Mnemonic: MBALPHAMLPA

    Collect

    Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA is also accepted.

    Volume Required

    5 ml whole blood or 1 ug DNA

    Minimum Required

    3 ml

    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

2-6 weeks

CPT

81404

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:

Multiplex ligation-dependent probe amplification (MLPA) to detect deletions in the alpha globin gene locus. DNA sequence analysis of the alpha 2 globin gene in selected cases.

Utility:

Confirmation of diagnosis, carrier detection, prenatal diagnosis

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