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Results: 1 to 10 of 10

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hypertriglyceridemia Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1712
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypercholesterolemia Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1012
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoXome MOx (Whole Exome Sequencing)

Centogene AG - the Rare Disease Company
Germany
1319
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • U Uniparental disomy study (UPD)

CentoLSD MOx

Centogene AG - the Rare Disease Company
Germany
1236
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoSphingo MOx

Centogene AG - the Rare Disease Company
Germany
1020
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Wolman disease Comprehensive test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Wolman disease Deletion / Duplication test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Liver Failure Panel

Blueprint Genetics
Finland
1416
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2725
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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