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  2. Tubulopathy (gene panel)

Tubulopathy (gene panel)

Genetic test Export to PDF
Full name:
Tubulopathy (gene panel)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
DNA
Method category:
Sequence analysis: entire coding region
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
RIZIV code:
565493-565504
Accreditation (ISO 15189):
2021-07-06 / 2022-10-06
Turnaround time (maximum):
20 - 60 days
Document(s):
Created:
08 Aug 2019 - 15:05
Changed:
26 Apr 2022 - 15:13
  • Tubulopathy/Hyperuricemia (gene panel) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY10 100.00 1 NM_018417.6
    AGXT 100.00 1 NM_000029.4
    ALDOB 100.00 1 NM_000030.3
    ALPL 100.00 1 NM_000035.4
    AP2S1 100.00 1 NM_000478.6
    AQP2 100.00 1 NM_004069.6
    ATP6V0A4 100.00 1 NM_000486.5
    ATP6V1B1 100.00 1 NM_020632.3
    ATP7B 100.00 1 NM_001692.4
    AVPR2 100.00 1 NM_000053.4
    BSND 100.00 1 NM_000054.6
    CASR 100.00 1 NM_057176.3
    CLCN5 100.00 1 NM_000388.4
    CLCNKB 100.00 1 NM_001127898.4
    CLDN10 100.00 1 NM_000085.5
    CLDN16 100.00 1 NM_006984.5
    CLDN19 100.00 1 NM_006580.3
    CNNM2 100.00 1 NM_148960.3
    CTNS 100.00 1 NM_017649.5
    CUL3 100.00 1 NM_004937.3
    CYP24A1 100.00 1 NM_003590.5
    EGF 100.00 1 NM_000782.5
    EGFR 100.00 1 NM_001963.6
    EHHADH 100.00 1 NM_005228.5
    FAH 100.00 1 NM_001966.4
    FAN1 100.00 1 NM_000137.4
    FGF23 100.00 1 NM_014967.5
    FXYD2 100.00 1 NM_020638.3
    G6PC1 100.00 1 NM_001680.5
    GALT 100.00 1 NM_000151.4
    GATM 100.00 1 NM_000155.4
    GNA11 100.00 1 NM_001482.3
    GRHPR 100.00 1 NM_002067.5
    HNF1B 100.00 1 NM_012203.2
    HOGA1 100.00 1 NM_000458.4
    HSD11B2 100.00 1 NM_138413.4
    KCNJ1 100.00 1 NM_000196.4
    KCNJ10 100.00 1 NM_000220.6
    KLHL3 100.00 1 NM_002241.5
    MAGED2 100.00 1 NM_017415.3
    NR3C2 100.00 1 NM_177433.3
    OCRL 100.00 1 NM_000901.5
    PCBD1 100.00 1 NM_000276.4
    PHEX 100.00 1 NM_000281.4
    REN 100.00 1 NM_000444.6
    SCNN1A 100.00 1 NM_000537.4
    SCNN1B 100.00 1 NM_001038.6
    SCNN1G 100.00 1 NM_000336.3
    SEC61A1 100.00 1 NM_001039.4
    SLC12A1 100.00 1 NM_013336.4
    SLC12A3 100.00 1 NM_000338.3
    SLC2A2 100.00 1 NM_001126108.2
    SLC34A1 100.00 1 NM_000340.2
    SLC34A3 100.00 1 NM_003052.5
    SLC3A1 100.00 1 NM_001177316.2
    SLC4A1 100.00 1 NM_000341.4
    SLC4A4 100.00 1 NM_000342.4
    SLC5A2 100.00 1 NM_001098484.3
    SLC7A9 100.00 1 NM_003041.4
    SLC9A3R1 100.00 1 NM_014270.5
    TRPM6 100.00 1 NM_004252.5
    UMOD 100.00 1 NM_017662.5
    VDR 100.00 1 NM_001278614.2
    VIPAS39 100.00 1 NM_000376.3
    VPS33B 100.00 1 NM_001193314.2
    WNK1 100.00 1 NM_018668.5
    WNK4 100.00 1 NM_018979.4
    AGTR1 100.00 1 no
    APRT 100.00 1 no
    CA2 100.00 1 no
    CACNA1H 100.00 1 no
    CLCN2 100.00 1 no
    CLCNKA 100.00 1 no
    CYP11B1 100.00 1 no
    CYP17A1 100.00 1 no
    DMP1 100.00 1 no
    ENPP1 100.00 1 no
    FANCA 100.00 1 no
    FAM20A 100.00 1 no
    FOXI1 100.00 1 no
    HNF1A 100.00 1 no
    HNF4A 100.00 1 no
    HPRT1 100.00 1 no
    KCNJ16 100.00 1 no
    KCNJ5 100.00 1 no
    KL 100.00 1 no
    LAGE3 100.00 1 no
    LDHD 100.00 1 no
    LRP2 100.00 1 no
    MEN1 100.00 1 no
    MOCOS 100.00 1 no
    PRPS1 100.00 1 no
    SLC16A12 100.00 1 no
    SLC22A12 100.00 1 no
    SLC2A9 100.00 1 no
    SLC36A2 100.00 1 no
    SLC5A1 100.00 1 no
    SLC6A19 100.00 1 no
    SLC6A20 100.00 1 no
    WDR72 100.00 1 no
    WFS1 100.00 1 no
    XDH 100.00 1 no