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Results: 1 to 5 of 5

Tests names and labsConditionsGenes, analytes, and microbesMethods

NGS panel - Ectopia lentis and/or Weill-Marchesani syndrome

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
57
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

NGS panel - Aortic or arterial dilatation / dissection

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
1121
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

NGS panel- Aortic or arterial dilatation/dissection + COL5A1

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
1422
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
1423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FBN1 sequencing and deletion/duplication analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 5 of 5

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