Test Code: ATHAPB

Genes: HBA1, HBA2 (2 genes)

Sample Type: Blood

Method: MLPA reflexed to Sanger Sequencing

Turnaround Time: 10 Days

Courier: Ship overnight at room temperature to receive next day. Maintain specimen at room temperature.

Price: 600

Description:
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)