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Results: 1 to 20 of 52 (representing 22 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

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

Myotubular/Centronuclear Myopathy Panel (5 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
145
  • 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

DI-CMTB

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

DNM2 sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

Comprehensive Neuropathy Sequencing Panel

PreventionGenetics
United States
8271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel

PreventionGenetics
United States
5041
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot Marie Tooth - Comprehensive Sequencing Panel

PreventionGenetics
United States
5445
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot Marie Tooth - Demyelinating Neuropathy Sequencing Panel

PreventionGenetics
United States
3525
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Charcot-Marie-Tooth

Human Genetics University Hospital Bern
Switzerland
2322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DNM2. Complete sequencing

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

DNM2, GARS, GDAP1, GJB1, MFN2, MPZ, MTMR2, NEFL, PMP22, PRX. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
1810
  • C Sequence analysis of the entire coding region

Dynamin-2 Related Disorders via the DNM2 Gene

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

Charcot-Marie-Tooth neuropathy axonal autosomal dominant panel

LifeLabs Genetics
Canada
2318
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Myopathy Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5719
  • 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

Rhabdomyolysis Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
7239
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CMT Advanced Evaluation - Nonprevalent Axonal

Athena Diagnostics Inc
United States
1311
  • 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

Results: 1 to 20 of 52

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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