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Results: 1 to 20 of 37 (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 1

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

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

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

ARTHROGRYPOSIS, DISTAL, TYPE 1

Laboratorio de Genetica Clinica SL
Spain
22
  • 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 1, Sequencing TPM2 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

Arthrogryposes Panel

Blueprint Genetics
Finland
158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CONGENITAL MYOPATHY

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
126
  • 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

TPM2 Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
41
  • C Sequence analysis of the entire coding region

Single gene testing TPM2

CeGaT GmbH
Germany
31
  • C Sequence analysis of the entire coding region

Nemaline Congenital Myopathy NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
107
  • C Sequence analysis of the entire coding region

Arthrogryposis, distal type 1B (sequence analysis of MYBPC1 gene)

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

TPM2

Fulgent Genetics
United States
41
  • 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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