Filters

See more specimen types...

Other countries

Results: 1 to 20 of 71

Tests names and labsConditionsGenes and analytesMethods

Distal Arthrogryposis Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
109
  • 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

Congenital Myopathy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2719
  • C Sequence analysis of the entire coding region

Congenital Myopathy Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
2517
  • D Deletion/duplication analysis

Nemaline Myopathy Panel (7 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MyoGene Panel (43 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
9543
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathy Panel (14 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nemaline myopathy type 4

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

Arthrogryposis, distal type 1

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

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

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • C Sequence analysis of the entire coding region

Nemaline Myopathy Sequencing Panel

PreventionGenetics
United States
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myopathy NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Fiber Type Disproportion Sequencing Panel

PreventionGenetics
United States
46
  • 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

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel

Invitae
United States
190150
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Fiber-Type Disproportion Panel

Invitae
United States
67
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Nemaline Myopathy Panel

Invitae
United States
1110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Myopathy Panel

Invitae
United States
5550
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 71

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.