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  2. Ehlers-Danlos syndroom, EDS (gene panel)

Ehlers-Danlos syndroom, EDS (gene panel)

Genetic test Export to PDF
Full name:
Ehlers-Danlos syndroom, EDS (gene panel)
Description:

ADAMTS2, AEBP1, B3GALT6, B3GAT3, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, FKBP14, PLOD1, PRDM5, RIN2, SLC39A13, XYLT1, XYLT2, ZNF469
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
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)
Laboratory:
Centrum Medische Genetica - UZ Gent
RIZIV code:
565493-565504
Accreditation (ISO 15189):
2021-09-11 / 2026-09-10
Turnaround time (maximum):
4 months
Document(s):
Created:
11 Dec 2019 - 13:10
Changed:
31 Jan 2023 - 13:58
URL:
https://www.cmgg.be/nl/zorgverlener/labguide/constitutioneel-genetische-aandoen…
  • Ehlers-Danlos syndrome -UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS2 100.00 1
    AEBP1 100.00 1
    B3GALT6 100.00 1
    B3GAT3 100.00 1
    B4GALT7 100.00 1
    C1R 100.00 1
    C1S 100.00 1
    CHST14 100.00 1
    COL12A1 100.00 1
    COL1A1 100.00 1
    COL1A2 100.00 1
    COL3A1 100.00 1
    COL5A1 100.00 1
    COL5A2 100.00 1
    DSE 100.00 1
    FKBP14 100.00 1
    PLOD1 100.00 1
    PRDM5 100.00 1
    RIN2 100.00 1
    SLC39A13 100.00 1
    XYLT1 100.00 1
    XYLT2 100.00 1
    ZNF469 100.00 1
    FLNA 100.00 1
    FLNB 100.00 1
    TAB2 100.00 1