1. Genetic tests
  2. Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))

Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))

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Full name:
Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Targeted variant analysis
Method technique:
Single nucleotide extension
Laboratory:
Centrum Medische Genetica - UZ Antwerpen
RIZIV code:
565390-565401
Turnaround time (maximum):
1 month
Document(s):
Created:
21 Aug 2019 - 18:06
Changed:
22 Jun 2022 - 12:25
URL:
https://labogidsmedgen.uza.be/analyses/tay-sachs-ziekte-van