1. Genetic tests
  2. Oculocutaneous albinism / Ocular albinism / Isolated nystagmus (gene panel)

Oculocutaneous albinism / Ocular albinism / Isolated nystagmus (gene panel)

Genetic test Export to PDF
Full name:
Oculocutaneous albinism / Ocular albinism / Isolated nystagmus (gene panel)
Description:

OCA/OA gene panel

Second line testing after targeted testing of ocular albinism type 1 and/or oculocutaneous albinismtype 1, 2, 3, 5, 6, 7
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Whole Exome Sequencing (WES)
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Medische Genetica - UZ Gent
RIZIV code:
565493-565504
Accreditation (ISO 15189):
2021-09-11 / 2026-09-10
Turnaround time (maximum):
6 months
Document(s):
Created:
17 Dec 2019 - 16:34
Changed:
16 Dec 2022 - 12:52
  • Oculocutaneous albinism / Ocular albinism - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AHR 99.79 1
    AP3B1 99.89 1
    AP3D1 100.00 1
    BLOC1S3 100.00 1
    BLOC1S5 99.80 1
    BLOC1S6 99.98 1
    DCT 99.98 1
    DTNBP1 99.89 1
    EPG5 99.95 1
    FRMD7 99.97 1
    GPR143 99.60 1
    HPS1 100.00 1
    HPS3 99.91 1
    HPS4 99.98 1
    HPS5 99.91 1
    HPS6 100.00 1
    LRMDA 99.87 1
    LYST 99.87 1
    MC1R 100.00 1
    MITF 99.98 1
    MLPH 100.00 1
    MYO5A 99.94 1
    OCA2 99.60 1
    PAX6 99.95 1
    RAB27A 99.94 1
    SLC24A5 99.99 1
    SLC38A8 99.99 1
    SLC45A2 100.00 1
    TYR 100.00 1
    TYRP1 99.97 1