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Results: 1 to 20 of 27 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

Potassium-aggravated myotonia

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

Comprehensive Neuromuscular NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
148124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Type IV Voltage-Gated Sodium Channel (Alpha Subunit)-Related Disorders via the SCN4A Gene

PreventionGenetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
1713
  • C Sequence analysis of the entire coding region

Periodic Paralysis Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
43
  • 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

Comprehensive Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3053447
  • -- Deletion/duplication analysis
  • -- 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

Congenital Myasthenic

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2012
  • C Sequence analysis of the entire coding region

Single gene testing SCN4A

CeGaT GmbH
Germany
51
  • C Sequence analysis of the entire coding region

Myotonia Panel

CeGaT GmbH
Germany
135
  • C Sequence analysis of the entire coding region

SCN4A Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
51
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SCN4A Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
51
  • D Deletion/duplication analysis

Malignant Hyperthermia Susceptibility

Medizinisch Genetisches Zentrum München MGZ München
Germany
22
  • C Sequence analysis of the entire coding region

Periodic Palsy

Medizinisch Genetisches Zentrum München MGZ München
Germany
36
  • C Sequence analysis of the entire coding region

SCN4A

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
1512
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early Onset Myotonia Evaluation

Athena Diagnostics Inc
United States
43
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SCN4A (Myotonia) DNA Sequencing Test

Athena Diagnostics Inc
United States
21
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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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