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Results: 1 to 20 of 37

Tests names and labsConditionsGenes and analytesMethods

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

Ataxia Exome Panel

Genetic Services Laboratory University of Chicago
United States
287480
  • C Sequence analysis of the entire coding region

Charcot Marie Tooth Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
4634
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Neuropathies: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
12790
  • D Deletion/duplication analysis

Charcot-Marie-Tooth Neuropathy Panel

Blueprint Genetics
Finland
186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth Syndrome

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
534
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SLC25A46 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Neuropathies Panel

Invitae
United States
10070
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SEPT9

Fulgent Genetics
United States
331
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SBF1

Fulgent Genetics
United States
151
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TNFRSF25

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LRRN4CL

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MARS

Fulgent Genetics
United States
191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COX6A1

Fulgent Genetics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DHTKD1

Fulgent Genetics
United States
121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GNB4

Fulgent Genetics
United States
91
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cancer Panel

Fulgent Genetics
United States
1724124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3030447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 37

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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