GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))
Full name: |
GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))
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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,
Amniotic fluid,
Chorionic villi,
Cell culture
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
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Accreditation (ISO 15189): |
2021-10-07 / 2026-06-14
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Turnaround time (maximum): |
3 months (10 working days for prenatal diagnosis)
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Document(s): | |
Created: |
26 Aug 2019 - 10:01
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Changed: |
09 Mar 2023 - 15:53
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URL: |