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Beta - Thalassaemia /Hbpathies- NGS reflexed to MLPA (Blood)

Single Gene

Test Code: BTHAPB

Genes: HBB (1 genes)

Sample Type: Blood

Method: Capture-based target enrichment and Next Generation Sequencing and reflexed to Multiplex Ligation?dependent Probe Amplification for large deletions.

Turnaround Time: 10 Days

Courier: 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.

Price: 600

Description:
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.