Test Code: ATHTRI
Alpha - Thalassaemia - Trio (Mother/Father/Prenatal) - MLPA reflexed to Sanger Sequencing
Prenatal & Reproductive
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.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube from parents;
25 ml of Amniotic fluid in sterile falcon tube.
Turnaround Time
14 - 21 days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
2 genes
HBA2
HBA1
Methodology
Deletional alpha thalassaemia: testing by gap-PCR or MLPA.
Non-deletional alpha thalasseamia: globin gene sequencing (Sanger sequencing)
Non-deletional alpha thalasseamia: globin gene sequencing (Sanger sequencing)
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