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Results: 1 to 20 of 56 (representing 18 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Limb-Girdle Muscular Dystrophy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
4630
  • C Sequence analysis of the entire coding region

Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
3925
  • D Deletion/duplication analysis

Congenital Muscular Dystrophy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
4227
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
4126
  • D Deletion/duplication analysis

MyoGene Panel (43 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
10143
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Muscular Dystrophy (LGMD/EDMD) Panel (25 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
6625
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
9988
  • C Sequence analysis of the entire coding region

Ashkenazi Jewish diseases

Asper Biotech Asper Biotech Ltd.
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dystroglycanopathy via the FKTN Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuromuscular Comprehensive Panel

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

Brain malformations

Asper Biotech Asper Biotech Ltd.
Estonia
185145
  • C Sequence analysis of the entire coding region

Brain Malformation Seizures Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5629
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5825
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Limb-Girdle Muscular Dystrophy Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
8030
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
3723
  • C Sequence analysis of the entire coding region

Muscular Dystrophy Advanced Evaluation

Athena Diagnostics Inc
United States
5633
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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 Muscular Dystrophy Panel

Invitae
United States
3327
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 56

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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