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Results: 1 to 17 of 17 (representing 12 labs)

Tests names and labsConditionsGenes and analytesMethods

Non-dystrophic myotonia congenita panel

Centogene AG - the Rare Disease Company
Germany
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

Brody myopathy

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

Neuromuscular Comprehensive Panel

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

Myotonic Syndrome Advanced Evaluation

Athena Diagnostics Inc
United States
97
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NGS Rhabdomyolysis and Metabolic Myopathies Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4647
  • C Sequence analysis of the entire coding region

NGS Rhabdomyolysis and Metabolic Myopathies Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4647
  • C Sequence analysis of the entire coding region

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel

Invitae
United States
167113
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Myopathy Panel

Invitae
United States
5850
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
141104
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Non-dystrophic myotonias

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1711
  • C Sequence analysis of the entire coding region

Single gene testing ATP2A1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Non-dystrophic myotonias (NGS panel for 11 genes)

CGC Genetics
Portugal
1211
  • C Sequence analysis of the entire coding region

Brody myopathy (sequence analysis of ATP2A1 gene)

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

ATP2A1

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brody Myopathy: ATP2A1 Full Gene Sequencing

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
11
  • C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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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