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.
Volume Required
5ml
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
81257
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
Remarks
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.
Contact Us
- (215) 590-8736
- Contact Us Online