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  2. Premature Ovarian Failure/Primary Ovarian Insufficiency (POF/POI) (32 genes)

Premature Ovarian Failure/Primary Ovarian Insufficiency (POF/POI) (32 genes)

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Full name:
Premature Ovarian Failure/Primary Ovarian Insufficiency (POF/POI) (32 genes)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Sequence analysis: entire coding region
Mutation screening and sequence analysis of selected exons
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
RIZIV code:
565493-565504
EQA:
  • 2018 next generation sequencing (germline) GenQA (Genomics Quality Assessment)
  • 2019 next generation sequencing (germline) GenQA (Genomics Quality Assessment)
  • 2020 next generation sequencing (germline) GenQA (Genomics Quality Assessment)
  • 2021 next generation sequencing (germline) GenQA (Genomics Quality Assessment)
  • 2022 next generation sequencing (germline) GenQA (Genomics Quality Assessment)
Accreditation (ISO 15189):
2021-10-07 / 2026-06-14
Turnaround time (maximum):
6 months
Document(s):
Created:
27 Aug 2019 - 14:53
Changed:
09 Mar 2023 - 16:24
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:Prematuur%20ovari%C3%ABle%20i…
  • Premature Ovarian Failure/Insufficiency (32 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AFF2 100.00 0
    AMH 75.52 0
    AMHR2 100.00 0
    BMP15 100.00 0
    DACH2 99.75 0
    DAZL 100.00 0
    DIAPH2 100.00 0
    DMC1 100.00 0
    ESR1 99.95 0
    FIGLA 98.07 0
    FMR1 100.00 0
    FOXL2 85.42 0
    FOXO1 86.72 0
    FOXO3 99.72 0
    FSHR 100.00 0
    GDF9 100.00 0
    GPR3 100.00 0
    HFM1 100.00 0
    INHA 100.00 0
    LHCGR 99.37 0
    MCM8 97.95 0
    MSH5 99.82 -2
    NOBOX 100.00 0
    NR5A1 100.00 0
    PATL2 100.00 0
    PGRMC1 100.00 0
    POF1B 100.00 0
    SOHLH1 100.00 0
    SOHLH2 96.06 0
    STAG3 99.70 0
    TGFBR3 100.00 0
    XPNPEP2 100.00 0