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Results: 1 to 20 of 94 (representing 22 labs)

Tests names and labsConditionsGenes and analytesMethods

Congenital Myopathy Deletion/Duplication Analysis

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

Congenital Muscular Dystrophy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
4024
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
3923
  • D Deletion/duplication analysis

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Nemaline Myopathy Panel (7 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
97
  • 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
10143
  • 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

Myopathy with fiber-type disproportion

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

Myopathy with fiber-type disproportion

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

SEPN1. Complete sequencing

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

ACTA1. Complete sequencing

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

TPM3. Complete sequencing

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

ACTA1, MYH7, RYR1, SEPN1, TPM3 . NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
45
  • C Sequence analysis of the entire coding region

Congenital Myopathy Sequencing Panel

PreventionGenetics
United States
3029
  • 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
57
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Myofibrillar Myopathy Sequencing Panel

PreventionGenetics
United States
1410
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Selenoprotein N, 1 via the SELENON/SEPN1 Gene

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

Myopathy, Congenital via the TPM3 Gene

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

a-Actin (Skeletal Muscle Form)-Related Myopathy via the ACTA1 Gene

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

Results: 1 to 20 of 94

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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