PCR for Thalassaemia and Xmn-I Genotyping

Genetic analysis for thalassaemia mutations is done by PCR. The test may be required for several reasons including:

  • Diagnosis in previously transfused patients
  • Silent thalassaemia alleles
  • Distinction between structural variants
  • Thalassaemia intermedia
  • α-thalassaemia
  • β-Thalassaemia carriers in certain situations
  • Rare thalassaemias

Samples required:

GRC offers cost-effective testing for β-Thalassaemia mutations and Xmn-I genotyping. We require 2 ml blood in EDTA. The sample may be collected at GRC or any remote location and dispatched to GRC within 24 hours of collection.