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Myopia (early onset high myopia)

Genetic test Export to PDF
Full name:
Myopia (early onset high myopia)
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
Whole Exome Sequencing (WES)
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Medische Genetica - UZ Gent
RIZIV code:
565493-565504
Turnaround time (maximum):
6 months
Created:
15 Dec 2023 - 17:00
Changed:
20 Dec 2023 - 07:36
  • Myopia gene panel - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS18 99.99 1
    AGRN 99.99 1
    ARR3 99.94 1
    BSG 100.00 1
    CACNA1F 99.94 1
    CNGB3 99.96 1
    COL11A1 90.72 1
    COL18A1 99.99 1
    COL2A1 99.87 1
    COL9A1 99.91 1
    COL9A2 98.76 1
    COL9A3 99.99 1
    CPSF1 99.99 1
    CTSH 99.99 1
    DZIP1 99.97 1
    FBN1 99.85 1
    GPR179 99.99 1
    GRM6 100.00 1
    GZF1 100.00 1
    LOXL3 99.95 1
    LRIT3 100.00 1
    LRP2 99.86 1
    LRPAP1 99.99 1
    NDUFAF7 99.98 1
    NYX 100.00 1
    OPN1LW 71.75 1
    OPN1MW 30.23 1
    P3H2 99.93 1
    P4HA2 100.00 1
    PRIMPOL 99.86 1
    RAB28 99.97 1
    RPGR 94.45 1
    SCO2 100.00 1
    SLC39A5 99.99 1
    SLITRK6 100.00 1
    TNFRSF21 99.97 1
    TRPM1 99.96 1
    XYLT1 99.98 1
    ZNF644 99.37 1