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Results: 1 to 20 of 123

Tests names and labsConditionsGenes and analytesMethods

Congenital Myopathy Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
3228
  • D Deletion/duplication analysis

Congenital Myopathy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
3228
  • C Sequence analysis of the entire coding region

Tempus xO assay

Tempus Labs, Inc.
United States
11714
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
119111
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Myopathy, centronuclear

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DI-CMTB

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DNM2 sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

DNM2 deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
21
  • D Deletion/duplication analysis

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel

Connective Tissue Gene Tests
United States
1322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lethal congenital contracture syndrome and related disorders NGS Panel

Connective Tissue Gene Tests
United States
1322
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lethal congenital contracture syndrome and related disorders Comprehensive Panel

Connective Tissue Gene Tests
United States
1322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal Myopathy Deletion / Duplication panel

Connective Tissue Gene Tests
United States
120
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Myopathy Comprehensive panel

Connective Tissue Gene Tests
United States
120
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal Myopathy NGS panel

Connective Tissue Gene Tests
United States
120
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth disease Comprehensive panel

Connective Tissue Gene Tests
United States
142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth disease NGS panel

Connective Tissue Gene Tests
United States
142
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth disease Deletion / Duplication panel

Connective Tissue Gene Tests
United States
142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital contracture syndrome extended Deletion / Duplication panel

Connective Tissue Gene Tests
United States
1031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 123

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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