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Results: 1 to 20 of 27

Tests names and labsConditionsGenes and analytesMethods

Distal Arthrogryposis Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1211
  • C Sequence analysis of the entire coding region

Distal Arthrogryposis Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
1211
  • D Deletion/duplication analysis

Arthrogryposis, distal type 2B

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

Distal arthrogryposes Deletion / Duplication panel

Connective Tissue Gene Tests
United States
110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal arthrogryposes Comprehensive panel

Connective Tissue Gene Tests
United States
110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal arthrogryposes NGS panel

Connective Tissue Gene Tests
United States
110
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Congenital contracture syndrome extended Comprehensive panel

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

Congenital contracture syndrome extended NGS panel

Connective Tissue Gene Tests
United States
1031
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Neuromuscular Sequencing Panel

PreventionGenetics
United States
148124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal Arthrogryposis Sequencing Panel with CNV Detection

PreventionGenetics
United States
1311
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNT3 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes

Reference Laboratory Genetics
Spain
163111
  • C Sequence analysis of the entire coding region

Distal Arthrogryposis, Massive Sequencing (NGS) 9 Genes

Reference Laboratory Genetics
Spain
119
  • C Sequence analysis of the entire coding region

Congenital Contractures Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8557
  • C Sequence analysis of the entire coding region

ARTHROGRYPOSIS, DISTAL, TYPE 2B (SHELDON-HALL SYNDROME)

Laboratorio de Genetica Clinica SL
Spain
14
  • C Sequence analysis of the entire coding region

ARTHROGRYPOSIS

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
47
  • C Sequence analysis of the entire coding region

Arthrogryposis, distal type 2B (sequence analysis of TNNT3MYH3 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndromes and Arthrogryposis Panel

CeGaT GmbH
Germany
944
  • C Sequence analysis of the entire coding region

TNNT3

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

Results: 1 to 20 of 27

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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