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Results: 1 to 20 of 61

Tests names and labsConditionsGenes, analytes, and microbesMethods

Distal Arthrogryposis Panel

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

TNNI2 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arthyrgryposis, distal, type 2B, 601680, Autosomal dominant (Sheldon-Hall syndrome) (TNNT3 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Arthrogryposis, distal, type 2B, 601680, Autosomal dominant (Sheldon-Hall syndrome) (MYH3 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Arthrogryposis, distal, type 2B, 601680, Autosomal dominant (Sheldon-Hall syndrome) (TPM2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Arthrogryposis multiplex congenita, distal, type 2B, 601680, Autosomal dominant; DA2B (Sheldon-Hall syndrome) (TNNI2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Arthrogryposis, distal, type 2B, 601680, Autosomal dominant (Sheldon-Hall syndrome) (MYH3 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Arthrogryposis multiplex congenita, distal, type 2B, 601680, Autosomal dominant; DA2B (Sheldon-Hall syndrome) (TNNI2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Arthyrgryposis, distal, type 2B, 601680, Autosomal dominant (Sheldon-Hall syndrome) (TNNT3 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Arthrogryposis, distal, type 2B, 601680, Autosomal dominant (Sheldon-Hall syndrome) (TPM2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Panel

PreventionGenetics, Part of Exact Sciences
United States
183142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal Arthrogryposis Panel

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

MYH3-Related Distal Arthrogryposis via the MYH3 Gene

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

Arthrogryposis panel. NGS panel of 69 genes.

Genologica Medica
Spain
13569
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 61

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.