1. Genetic tests
  2. Amyotrophic lateral sclerosis (gene panel)

Amyotrophic lateral sclerosis (gene panel)

Genetic test Export to PDF
Full name:
Amyotrophic lateral sclerosis (gene panel)
Description:

Part 2: Genetic check of the other most common genes linked to:

Familial Amyotrophic lateral sclerosis (FALS): SOD1, TARDBP and FUS. The exons in which the mutations described so far are located (SOD1 ex 1-5; TARDBP ex 6 and FUS ex 5, 6, 14 and 15) are examined by direct sequencing.

Frontotemporal dementia: The coding regions of MAPT and GRN are examined by direct sequencing. Genomic deletions and duplications in MAPT and GRN are detected using MLPA (multiplex ligation dependent probe amplification) (SALSA MLPA P275).
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Mutation confirmation,
Post-natal Diagnosis,
Predictive and Pre-symptomatic diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Sequence analysis: entire coding region
Deletion/duplication analysis
Method technique:
Bi-directional Sanger Sequence analysis
MLPA based techniques
Laboratory:
Centrum Menselijke Erfelijkheid - KUL
RIZIV code:
565456-565460
Accreditation (ISO 15189):
2021-07-08 / 2026-02-02
Turnaround time (maximum):
3 - 4 months
Document(s):
Created:
17 Jul 2019 - 12:46
Changed:
01 Mar 2023 - 14:37
URL:
https://laboboeken.nexuzhealth.com/pboek/internet/GHB%20CME/12129