Beta-globin hemoglobinopathies (Hot-spot mutations : Sickle cell disease (HBS), hemoglobin C, hemoglobin E or Hemoglobin D)
Full name: |
Beta-globin hemoglobinopathies (Hot-spot mutations : Sickle cell disease (HBS), hemoglobin C, hemoglobin E or Hemoglobin D)
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Description: |
Investigation of hemoglobinopathy related to HBB gene : - point mutations in HBB gene by Sanger Sequencing - deletions in HBB cluster by MLPA (MRC Holland P102) |
Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Prenatal diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA,
Dried blood spot card,
Chorionic villi,
Amniotic fluid,
DNA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
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Accreditation (ISO 15189): |
2022-02-24 / 2026-02-23
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Turnaround time (maximum): |
1 month
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Document(s): | |
Created: |
12 Dec 2019 - 13:53
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Changed: |
23 Jan 2023 - 11:33
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URL: |