Thalassemia Mutation Testing

DESCRIPTION – thalassemia mutation testing refers to the analysis of HBA1 and HBA2 genes for alpha-thalassemia and HBB gene for beta-thalassemia to understand the presence of the mutation and inheritance patterns that lead to thalassemia and other related genes

METHODOLOGY – next generation sequencing (NGS)

TURN AROUND TIME – 10 days

PATIENT PREPARATION –

COLLECT – cultured aminocytes or cultured CVS and maternal whole blood specimen

SPECIMEN PREPARATION –

Cultured

aminocytes

or cultured CVS – transfer these cultures to 2 flasks at 80 percent confluence

Maternal blood – transfer 5 ml of whole blood

STORAGE/TRANSPORT TEMPERATURE – room temperature for both

STABILITY –

Cultured

aminocytes

or cultured CVS – ambient: 24 hours

Maternal whole blood – ambient: 7 days; refrigerated: 1 month

SPECIAL INSTRUCTIONS – clinical history is mandatory