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MODY : Maturity onset Diabete of the Young (gene panel)

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Full name:
MODY : Maturity onset Diabete of the Young (gene panel)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
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)
Bi-directional Sanger Sequence analysis
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
RIZIV code:
565493-565504
EQA:
  • 2017 Monogenic Diabetes EMQN
  • 2020 Monogenic Diabetes EMQN
  • 2023 Monogenic Diabetes EMQN
Accreditation (ISO 15189):
2022-10-07 / 2027-10-06
Turnaround time (maximum):
20-60 days
Document(s):
Created:
07 Aug 2019 - 13:40
Changed:
22 Jan 2024 - 09:56
  • MODY - Maturity onset Diabete of the Young (21 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC8 100.00 1 no
    GCK 100.00 1 no
    HNF1A 100.00 1 no
    HNF1B 100.00 1 no
    HNF4A 100.00 1 no
    INS 100.00 1 no
    KCNJ11 100.00 1 no
    APPL1 100.00 1 no
    BLK 100.00 1 no
    CEL 100.00 1 no
    GLUD1 100.00 1 no
    HADH 100.00 1 no
    KLF11 100.00 1 no
    INSR 100.00 1 no
    NEUROD1 100.00 1 no
    PAX4 100.00 1 no
    PDHX 100.00 1 no
    SLC16A1 100.00 1 no
    SLC16A12 100.00 1 no
    SLC5A2 100.00 1 no
    ZFP57 100.00 1 no