Test Code: BTHAPB
Beta - Thalassaemia /Hbpathies- NGS reflexed to MLPA (Blood)
Monogenic disorder
HBB gene sequencing by NGS provides complete coverage of the gene, including intronic regions and untranslated regions (-100 in the 5′ UTR through +320 in the 3′ UTR), addressing over 450 known mutations. The test is reflexed to Multiplex Ligation‑dependent Probe Amplification
for detection of deletions.
for detection of deletions.
Sample Type
Blood
Turnaround Time
10 Days days
Courier Requirements
Samples may be stored refrigerated if not being transported immediately. Please send samples within 7 days of venepuncture. Samples may be transported at ambient temperature.
Pricing
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Genes Analyzed
1 genes
HBB
Methodology
Capture-based target enrichment and Next Generation Sequencing and reflexed to Multiplex Ligation‑dependent Probe Amplification for large deletions.
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