Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion

Genetic test Export to PDF
Full name:
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion
Description:

(CTA.TAG)n (CTG.CAG)n repeat expansion for type 8; ATTCT-repeat CAG repeat expansion for type 10;  CAG repeat expansion for type 12;  CAG/CAA-repeat for type 17; CAG repeat expansion for Dentatorubral pallidoluysian atrophy

Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Predictive and Pre-symptomatic diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Amniotic fluid,
Chorionic villi,
Cell culture
Method category:
Method technique:
Laboratory:
RIZIV code:
Turnaround time (maximum):
3 months (10 working days for prenatal diagnosis)
Document(s):
Created:
21 Aug 2019 - 17:50
Changed:
09 Mar 2023 - 16:30