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Results: 1 to 8 of 8

Tests names and labsConditionsGenes, analytes, and microbesMethods

UBA1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hereditary Motor Neuropathy Panel

Invitae
United States
6026
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuropathies Panel

Invitae
United States
20196
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inborn Errors of Immunity Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
89
  • C Sequence analysis of the entire coding region

Myeloid Malignancies Mutation and Copy Number Variation Panel by Next Generation Sequencing

ARUP Laboratories, Molecular Oncology ARUP Laboratories
United States
665
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

VEXAS syndrome (search for somatic variants in codon 41 of the UBA1 gene)

CGC Genetics Unilabs
Portugal
11
  • E Sequence analysis of select exons

Myeloid Malignancies Mutation Panel by Next Generation Sequencing

ARUP Laboratories, Molecular Oncology ARUP Laboratories
United States
665
  • C Sequence analysis of the entire coding region

Somatic Overgrowth Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
8649
  • C Sequence analysis of the entire coding region

Results: 1 to 8 of 8

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