Test Code: ATHAPB
Alpha - Thalassaemia -MLPA reflexed to Sanger Sequencing
Haematogenetics
Molecular diagnosis of alpha thalassaemia. Deletions in the HBA1 and HBA2 genes are found in over 98% of alpha thalassemia cases with seven founder mutations accounting for ~95% of all alpha thalassemia cases: -α3.7, -α4.2, -(α)20.5, --SEA, --MED, --FIL, and - THAI. Patients with non-deletional forms of alpha thalassemia often present with more severe disease. The most common point variant found in Asian populations is Hemoglobin Constant Spring (HbCS) which abolishes the canonical termination codon in the HBA2 gene, c.427T>C (p.*143Gln)
Sample Type
Blood
Turnaround Time
10 Days days
Courier Requirements
Ship overnight at room temperature to receive next day. Maintain specimen at room temperature.
Pricing
Login to view pricing
Genes Analyzed
2 genes
HBA1
HBA2
Methodology
MLPA reflexed to Sanger Sequencing
Need Help with This Test?
Our team of board-certified genomic scientists is available to answer your questions about test selection, sample requirements, and result interpretation.