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  2. Hyperekplexia (gene panel-6 genes)

Hyperekplexia (gene panel-6 genes)

Genetic test Export to PDF
Full name:
Hyperekplexia (gene panel-6 genes)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
DNA
Method category:
Sequence analysis: entire coding region
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Bi-directional Sanger Sequence analysis
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
RIZIV code:
565471-565482
Accreditation (ISO 15189):
2022-10-07 / 2027-10-06
Turnaround time (maximum):
2 to 6 months
Document(s):
Created:
01 Dec 2021 - 17:17
Changed:
04 Dec 2023 - 09:50
  • Hyperekplexia (6 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ARHGEF9 100.00 1 NM_001353921.2
    ATAD1 100.00 1 NM_001321967.1
    GLRA1 100.00 1 NM_000171.4
    GLRB 100.00 1 NM_000824.5
    GPHN 100.00 1 NM_020806.4
    SLC6A5 100.00 1 NM_004211.5