Test Directory

Alpha - Thalassaemia - Trio (Mother/Father/Prenatal) - MLPA reflexed to Sanger Sequencing

This comprehensive prenatal test evaluates the HBA1 and HBA2 genes in a trio setting, analysing parental and prenatal samples simultaneously to accurately determine the inheritance of thalassaemia-associated variants. Initial testing is performed using Multiplex Ligation-dependent Probe Amplification (MLPA) to detect common and rare deletions or duplications associated with alpha- and beta-thalassaemia. Where clinically indicated, samples are reflexed to Sanger sequencing for the detection and confirmation of sequence variants not identifiable by MLPA. This combined approach enables the identification of both copy number and sequence-level alterations, providing a comprehensive assessment of fetal risk and supporting prenatal diagnosis and genetic counselling for families at risk of thalassaemia.

Cholestasis and (congenital) bile acid synthesis defect (14 Genes)