Collect whole blood in a purple top (EDTA) tube.
Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.
Whole blood can be refrigerated until shipment.
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.
Mon - Fri 9:00am to 4:00pm
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.
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.
Confirmation of diagnosis, carrier detection, prenatal diagnosis
Whole blood in EDTA purple top tubes is the preferred sample. High molecular weight genomic DNA, cheek epithelial cells, or other samples containing DNA may be acceptable. Contact the laboratory for specific instructions regarding such samples before sending the sample.