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  2. Amyotrophic lateral sclerosis (GGGGCC repeat expansion in the C9ORF72 gene)

Amyotrophic lateral sclerosis (GGGGCC repeat expansion in the C9ORF72 gene)

Genetic test Export to PDF
Full name:
Amyotrophic lateral sclerosis (GGGGCC repeat expansion in the C9ORF72 gene)
Description:

Part 1: C9ORF72 An expansion of a GGGCC repeat in the 5' untranslated region of the C9ORF72 gene, located on chromosome 9p, is the most frequent cause of Amyotrophic lateral sclerosis/ Frontotemporal Dementia( (FTD) Repeat lengths in the normal range are determined by PCR and an expansion is revealed by TP-PCR (in house test).

 
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Mutation confirmation,
Post-natal Diagnosis,
Predictive and Pre-symptomatic diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Targeted variant analysis
Method technique:
PCR based technique
Laboratory:
Centrum Menselijke Erfelijkheid - KUL
RIZIV code:
565456-565460
Accreditation (ISO 15189):
2021-07-08 / 2026-02-02
Turnaround time (maximum):
6 - 8 weeks
Document(s):
Created:
17 Jul 2019 - 12:46
Changed:
01 Mar 2023 - 14:37
URL:
https://laboboeken.nexuzhealth.com/pboek/internet/GHB%20CME/12129