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Hypogonadotropic hypogonadism (33 genes)

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Full name:
Hypogonadotropic hypogonadism (33 genes)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic 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:
26 Aug 2019 - 10:48
Changed:
09 Mar 2023 - 15:57
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:Hypogonadotroop%20hypogonadis…
  • Hypogonadotropic hypogonadism (33 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANOS1 95.04 0 No comment
    CHD7 100.00 0 No comment
    DMXL2 100.00 0 No comment
    DUSP6 100.00 0 No comment
    FEZF1 100.00 0 No comment
    FGF17 100.00 0 No comment
    FGF8 94.82 0 No comment
    FGFR1 100.00 0 No comment
    FLRT3 100.00 0 No comment
    FSHB 100.00 0 No comment
    GNRH1 100.00 0 No comment
    GNRHR 100.00 0 No comment
    HESX1 100.00 0 No comment
    HS6ST1 98.52 0 No comment
    IL17RD 98.31 0 No comment
    KISS1 100.00 0 No comment
    KISS1R 94.58 0 No comment
    LHB 97.18 0 No comment
    MKRN3 100.00 0 No comment
    NR0B1 100.00 0 No comment
    NSMF 95.23 0 No comment
    OTUD4 100.00 0 No comment
    PCSK1 100.00 0 No comment
    PNPLA6 100.00 0 No comment
    PROK2 98.51 0 No comment
    PROKR2 100.00 0 No comment
    RNF216 100.00 0 No comment
    SEMA3A 100.00 0 No comment
    SEMA7A 93.22 0 No comment
    SOX10 96.79 0 No comment
    TAC3 100.00 0 No comment
    TACR3 100.00 0 No comment
    WDR11 100.00 0 No comment