Orphanet: Diagnostik peroxisomaler Stoffwechselkrankheiten Gene: ABCD1, PEX1 3, PEX5, PEX6, PEX10 14, PEX16, PEX19, PEX26

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Diagnosis of peroxisomal disorders (ABCD1, PEX1-3, PEX5, PEX6, PEX10-14, PEX16, PEX19, PEX26 genes)

  • MVZ Dr. Eberhard und Partner - Bereich Laboratoriumsmedizin und Humangenetik
  • Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
  • Brauhausstra▀e 4
  • 44137 DORTMUND
  • Director of laboratory : -
  • More information
  • Phone : 49 (0)231 95720
  • Additional Phone : -
  • Fax : 49 (0)231 553619
  • Website
  • Contact
Last update: January 2020

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)
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