Filters

See more specimen types...

Other countries

Results: 1 to 20 of 60 (representing 21 labs)

Tests names and labsConditionsGenes and analytesMethods

Distal Arthrogryposis Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1110
  • C Sequence analysis of the entire coding region

Distal Arthrogryposis Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
1110
  • 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

Arthrogryposis, distal type 2B

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

Arthrogryposis, distal type 2B

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

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

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

TPM2. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

MYH3. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

MYH3 -Related Distal Arthrogryposis via the MYH3 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Tropomyosin 2-Related Disorders via the TPM2 Gene

PreventionGenetics
United States
31
  • 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

Distal Arthrogryposis 2B (Sheldon-Hall Syndrome) via the TNNI2 Gene

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

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

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

Neuromuscular Disorders Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
244144
  • C Sequence analysis of the entire coding region

Distal Arthrogryposis Type 2B, Mutations TNNI2 Gene

Reference Laboratory Genetics
Spain
11
  • E Sequence analysis of select exons

Distal Arthrogryposis Type 2B , Sequencing MYH3 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Distal Arthrogryposis Type 2B, Sequencing TNNI2 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Neuromuscular Comprehensive Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
454305
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathy Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 60

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.

Support Center