Description

deletion/duplication analysis is intended for individuals who have a clinical diagnosis of β-thalassemia and have either one or no pathogenic variants detected by HBB full gene sequencing. This test may also be used for carrier screening in individuals at increased risk of being an HBB carrier but have tested negative by HBB full gene sequencing. If testing is needed for a known familial large deletion or duplication, please submit a copy of the laboratory report documenting the familial variant in the index family member.

5-7 business days

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