1. Genetic tests
  2. Lysosomal Storage Disease (gene panel)

Lysosomal Storage Disease (gene panel)

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Full name:
Lysosomal Storage Disease (gene panel)
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,
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):
3 months
Document(s):
Created:
26 Aug 2019 - 12:39
Changed:
09 Mar 2023 - 16:03
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:Lysosomale%20stapelingsziekte…
  • Lysomal Storage (64 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY5 94.52 0 No comment
    AGA 100.00 0 No comment
    ARSA 100.00 0 No comment
    SLURP1 85.73 0 No comment
    ASAH1 99.94 0 No comment
    CHIT1 100.00 0 No comment
    CLN3 100.00 0 No comment
    CLN5 99.94 0 No comment
    CLN6 90.35 0 No comment
    CLN8 100.00 0 No comment
    CTNS 100.00 0 No comment
    CTSA 100.00 0 No comment
    CTSC 100.00 0 No comment
    CTSD 99.45 0 No comment
    CTSK 100.00 0 No comment
    DGUOK 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FUCA1 100.00 0 No comment
    GAA 100.00 0 No comment
    GALC 98.44 0 No comment
    GALNS 96.18 0 No comment
    GBA1 100.00 0 No comment
    GLA 100.00 0 No comment
    GLB1 100.00 0 No comment
    GM2A 100.00 0 No comment
    GNPTAB 100.00 0 No comment
    GNPTG 94.69 0 No comment
    GNS 100.00 0 No comment
    GUSB 100.00 0 No comment
    HEXA 100.00 0 No comment
    HEXB 99.82 0 No comment
    HGSNAT 93.95 0 No comment
    HYAL1 100.00 0 No comment
    IDS 100.00 0 No comment
    IDUA 88.67 0 No comment
    LAMP2 100.00 0 No comment
    LIPA 100.00 0 No comment
    MAN2B1 100.00 0 No comment
    MANBA 99.97 0 No comment
    MCOLN1 97.27 0 No comment
    MFSD8 100.00 0 No comment
    MGME1 100.00 0 No comment
    MPV17 100.00 0 No comment
    NAGA 100.00 0 No comment
    NAGLU 87.38 0 No comment
    NEU1 100.00 0 No comment
    NPC1 98.40 0 No comment
    NPC2 100.00 0 No comment
    OCRL 99.77 0 No comment
    POLG 100.00 0 No comment
    PPT1 100.00 0 No comment
    PSAP 100.00 0 No comment
    RRM2B 100.00 0 No comment
    SGSH 99.99 0 No comment
    SLC17A5 100.00 0 No comment
    SMPD1 100.00 0 No comment
    STS 100.00 0 No comment
    SUCLA2 100.00 0 No comment
    SUCLG1 95.74 0 No comment
    SUMF1 100.00 0 No comment
    TK2 95.90 0 No comment
    ACD 100.00 0 No comment
    TWNK 100.00 0 No comment
    TYMP 91.72 0 No comment