1. Genetic tests
  2. Metabolic disorders including disorders of glycosylation, peroxisomal disorders, organic acidurias, glycogenosis disorders, neurotransmitter disorders (213 genes)

Metabolic disorders including disorders of glycosylation, peroxisomal disorders, organic acidurias, glycogenosis disorders, neurotransmitter disorders (213 genes)

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Full name:
Metabolic disorders including disorders of glycosylation, peroxisomal disorders, organic acidurias, glycogenosis disorders, neurotransmitter disorders (213 genes)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Dried blood spot card
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 (2 months for neonatal testing)
Document(s):
Created:
26 Aug 2019 - 14:50
Changed:
09 Mar 2023 - 16:08
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:Metabole%20aandoening&&&&&287…
  • Metabolic disorders (213 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABAT 100.00 0 No comment
    ABCD1 99.93 0 No comment
    ACAT1 97.28 0 No comment
    ACOX1 100.00 0 No comment
    AGL 99.98 0 No comment
    AGPS 100.00 0 No comment
    AGXT 100.00 0 No comment
    ALDH18A1 100.00 0 No comment
    ALDH7A1 100.00 0 No comment
    ALDOA 100.00 0 No comment
    ALDOB 100.00 0 No comment
    ALG1 92.65 0 No comment
    ALG10 100.00 0 No comment
    ALG11 100.00 0 No comment
    ALG12 100.00 0 No comment
    ALG13 99.96 0 No comment
    ALG14 100.00 0 No comment
    ALG2 99.94 0 No comment
    ALG3 99.22 0 No comment
    ALG5 99.99 0 No comment
    ALG6 100.00 0 No comment
    ALG8 95.91 0 No comment
    ALG9 98.65 0 No comment
    AMACR 99.83 0 No comment
    AMT 99.94 0 No comment
    ASPA 100.00 0 No comment
    ATP6AP1 99.51 0 No comment
    ATP6V0A2 100.00 0 No comment
    ATP6V1A 100.00 0 No comment
    ATP6V1E1 100.00 0 No comment
    ATP7A 100.00 0 No comment
    ATP9B 99.97 0 No comment
    B3GALNT2 85.88 0 No comment
    B3GALT6 56.12 0 No comment
    B3GAT3 95.56 0 No comment
    B3GLCT 94.89 0 No comment
    B4GALNT1 100.00 0 No comment
    B4GALT1 100.00 0 No comment
    B4GALT7 93.23 0 No comment
    BCKDHA 100.00 0 No comment
    BCKDHB 100.00 0 No comment
    BTD 100.00 0 No comment
    CAD 100.00 0 No comment
    CCDC115 100.00 0 No comment
    CHST14 98.57 0 No comment
    CHST3 100.00 0 No comment
    CHST6 100.00 0 No comment
    CHSY1 91.67 0 No comment
    COG1 99.24 0 No comment
    COG2 100.00 0 No comment
    COG3 100.00 0 No comment
    COG4 100.00 0 No comment
    COG5 100.00 0 No comment
    COG6 100.00 0 No comment
    COG7 100.00 0 No comment
    COG8 100.00 0 No comment
    CRPPA 95.75 0 No comment
    CTH 100.00 0 No comment
    D2HGDH 100.00 0 No comment
    DAD1 100.00 0 No comment
    DBH 100.00 0 No comment
    DBT 100.00 0 No comment
    DDC 100.00 0 No comment
    DDOST 100.00 0 No comment
    DHDDS 100.00 0 No comment
    DNM1L 100.00 0 No comment
    DOLK 100.00 0 No comment
    DPAGT1 100.00 0 No comment
    DPM1 100.00 0 No comment
    DPM2 100.00 0 No comment
    DPM3 100.00 0 No comment
    ENO3 100.00 0 No comment
    EOGT 100.00 0 No comment
    EXT1 100.00 0 No comment
    EXT2 100.00 0 No comment
    FANCA 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FUT1 100.00 0 No comment
    G6PC1 100.00 0 No comment
    GAA 100.00 0 No comment
    GABRG2 92.03 0 No comment
    GALE 100.00 0 No comment
    GALK1 99.95 0 No comment
    GALNT3 100.00 0 No comment
    GALT 100.00 0 No comment
    GAMT 98.60 0 No comment
    GANAB 100.00 0 No comment
    GATM 99.26 0 No comment
    GBE1 100.00 0 No comment
    GCDH 100.00 0 No comment
    GCH1 96.30 0 No comment
    GCSH 76.04 0 No comment
    GFPT1 99.98 0 No comment
    GLDC 96.53 0 No comment
    GMPPA 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNE 100.00 0 No comment
    GNMT 100.00 0 No comment
    GNPAT 100.00 0 No comment
    GYS1 100.00 0 No comment
    GYS2 100.00 0 No comment
    HGD 100.00 0 No comment
    HLCS 100.00 0 No comment
    HMGCL 100.00 0 No comment
    HPRT1 94.60 0 No comment
    HSD17B4 100.00 0 No comment
    IVD 100.00 0 No comment
    LAMP2 100.00 0 No comment
    LARGE1 100.00 0 No comment
    LDHA 100.00 0 No comment
    LFNG 82.55 0 No comment
    MAGT1 100.00 0 No comment
    MAN1B1 99.99 0 No comment
    MAOA 99.95 0 No comment
    MCCC1 100.00 0 No comment
    MCCC2 99.99 0 No comment
    MGAT2 100.00 0 No comment
    MMAA 100.00 0 No comment
    MMAB 100.00 0 No comment
    MMACHC 100.00 0 No comment
    MOGS 98.73 0 No comment
    MPDU1 100.00 0 No comment
    MPI 100.00 0 No comment
    MMUT 100.00 0 No comment
    NANS 100.00 0 No comment
    NGLY1 99.98 0 No comment
    NUS1 100.00 0 No comment
    OAT 100.00 0 No comment
    OST4 100.00 0 No comment
    PCCA 100.00 0 No comment
    PCCB 99.98 0 No comment
    PEX1 100.00 0 No comment
    PEX10 88.47 0 No comment
    PEX11B 100.00 0 No comment
    PEX12 100.00 0 No comment
    PEX13 100.00 0 No comment
    PEX14 100.00 0 No comment
    PEX16 100.00 0 No comment
    PEX19 100.00 0 No comment
    PEX2 100.00 0 No comment
    PEX26 100.00 0 No comment
    PEX3 100.00 0 No comment
    PEX5 100.00 0 No comment
    PEX6 98.56 0 No comment
    PEX7 91.13 0 No comment
    PFKM 100.00 0 No comment
    PGAM2 100.00 0 No comment
    PGAP1 100.00 0 No comment
    PGAP2 100.00 0 No comment
    PGAP3 99.90 0 No comment
    PGM1 100.00 0 No comment
    PGM2 100.00 0 No comment
    PGM3 99.99 0 No comment
    PHGDH 100.00 0 No comment
    PHKA1 100.00 0 No comment
    PHKA2 100.00 0 No comment
    PHKB 100.00 0 No comment
    PHKG2 100.00 0 No comment
    PIGA 100.00 0 No comment
    PIGC 100.00 0 No comment
    PIGG 100.00 0 No comment
    PIGL 100.00 0 No comment
    PIGM 100.00 0 No comment
    PIGN 100.00 0 No comment
    PIGO 100.00 0 No comment
    PIGV 100.00 0 No comment
    PIGW 100.00 0 No comment
    PIGY 100.00 0 No comment
    PMM2 100.00 0 No comment
    PNPO 100.00 0 No comment
    POFUT1 100.00 0 No comment
    POGLUT1 100.00 0 No comment
    POMGNT1 100.00 0 No comment
    POMT1 100.00 0 No comment
    POMT2 99.90 0 No comment
    PRKCSH 100.00 0 No comment
    PSAT1 100.00 0 No comment
    PYGL 100.00 0 No comment
    PYGM 100.00 0 No comment
    RFT1 100.00 0 No comment
    RPN1 100.00 0 No comment
    RPN2 100.00 0 No comment
    RXYLT1 99.84 0 No comment
    SCP2 100.00 0 No comment
    SEC23B 100.00 0 No comment
    SLC25A22 100.00 0 No comment
    SLC2A1 99.94 0 No comment
    SLC35A1 100.00 0 No comment
    SLC35A2 100.00 0 No comment
    SLC35A3 100.00 0 No comment
    SLC35C1 100.00 0 No comment
    SLC35D1 99.99 0 No comment
    SLC39A8 97.00 0 No comment
    SLC3A1 100.00 0 No comment
    SLC6A19 100.00 0 No comment
    SLC6A8 98.78 0 No comment
    SLC7A9 100.00 0 No comment
    SPR 96.81 0 No comment
    SRD5A3 99.42 0 No comment
    SSR3 100.00 0 No comment
    SSR4 99.93 0 No comment
    ST3GAL3 100.00 0 No comment
    ST3GAL5 92.64 0 No comment
    STT3A 100.00 0 No comment
    STT3B 99.25 0 No comment
    TMEM165 89.91 0 No comment
    TMEM199 100.00 0 No comment
    TRAPPC11 100.00 0 No comment
    TUSC3 100.00 0 No comment
    VPS13B 99.25 0 No comment
    XYLT1 88.83 0 No comment
    XYLT2 98.70 0 No comment