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Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations)

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Full name:
Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Amniotic fluid,
Chorionic villi,
Cell culture
Method category:
Targeted variant analysis
Method technique:
Bi-directional Sanger Sequence analysis
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
RIZIV code:
565390-565401
Turnaround time (maximum):
3 months (10 working days for prenatal diagnosis)
Document(s):
Created:
26 Aug 2019 - 10:53
Changed:
28 Jul 2022 - 08:42