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