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  2. Lipodystrophy and/or hyperinsulinism (gene panel)

Lipodystrophy and/or hyperinsulinism (gene panel)

Genetic test Export to PDF
Full name:
Lipodystrophy and/or hyperinsulinism (gene panel)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Newborn screening,
Post-natal Diagnosis,
Prenatal 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
Turnaround time (maximum):
20 to 60 days
Created:
14 Dec 2022 - 14:12
Changed:
11 Dec 2023 - 12:54
  • Lipodystrophy and/or hyperinsulinism (30 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC8 100.00 1 NM_000352.6
    AGPAT2 100.00 1 NM_006412.4
    AKT2 100.00 1 NM_001626.6
    ALMS1 100.00 1 NM_001378454.1
    BLM 100.00 1 NM_000057.4
    BSCL2 100.00 1 NM_001122955.4
    CAV1 100.00 1 NM_001753.5
    CAVIN1 100.00 1 NM_012232.6
    CIDEC 100.00 1 NM_001321142.2
    GCK 100.00 1 NM_000162.5
    GLUD1 100.00 1 NM_005271.5
    HADH 100.00 1 NM_005327.7
    INSR 100.00 1 NM_000208.4
    KCNJ11 100.00 1 NM_000525.4
    LIPE 100.00 1 NM_005357.4
    LMNA 100.00 1 NM_170707.4
    PCNT 100.00 1 NM_006031.6
    PCYT1A 100.00 1 NM_001312673.2
    PIK3R1 100.00 1 NM_181523.3
    POLD1 100.00 1 NM_002691.4
    PPARG 100.00 1 NM_138711.6
    SLC16A1 100.00 1 NM_003051.4
    WRN 100.00 1 NM_000553.6
    ZMPSTE24 100.00 1 NM_005857.5
    HNF1A 100.00 1 NM_000545.8
    HNF4A 100.00 1 NM_175914.5
    MAFA 100.00 1 NM_201589.4
    PLAAT3 100.00 1 NM_001128203.2
    PPP1R3A 100.00 1 NM_002711.4
    UCP2 100.00 1 NM_003355.3