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Stargardt disease

Genetic test Export to PDF
Full name:
Stargardt disease
Description:

ABCA4 coding sequence + 34 pathogenic deep intronic variants (Khan et al. Genet Med 2020; PMID: 32307445)

 

 
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Sequence analysis: entire coding region
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
MLPA based techniques
Laboratory:
Centrum Medische Genetica - UZ Gent
RIZIV code:
565471-565482
Accreditation (ISO 15189):
2021-09-11 / 2026-09-10
Turnaround time (maximum):
3-4 months
Document(s):
Created:
02 Aug 2019 - 08:18
Changed:
14 Dec 2022 - 16:51