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Results: 21 to 40 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

Myotonia Congenita via the CLCN1 Gene

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

Periodic paralysis panel. Panel NGS genes: CACNA1S, CLCN1, KCNJ2, SCN4A.

Genologica Medica
Spain
134
  • C Sequence analysis of the entire coding region

Congenital Myotonia Autosomal Recessive (Becker disease)

Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center
Turkey
11
  • C Sequence analysis of the entire coding region

Hypokalemic and Hyperkalemic Periodic Paralysis Disorders (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
127
  • C Sequence analysis of the entire coding region

Myotonia Panel

GeneDx
United States
1210
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons

CLCN1 Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
602355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypokalemic and Hyperkalemic Periodic Paralysis NGS Panel

Fulgent Genetics
United States
145
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nondystrophic Myotonia NGS Panel

Fulgent Genetics
United States
3510
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes

Reference Laboratory Genetics
Spain
6044
  • C Sequence analysis of the entire coding region

Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes

Reference Laboratory Genetics
Spain
159111
  • C Sequence analysis of the entire coding region

Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes

Reference Laboratory Genetics
Spain
109
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
233144
  • C Sequence analysis of the entire coding region

Congenital myotonia, autosomal recessive; Becker disease

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

Myotonic Syndrome Advanced Evaluation

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

Single gene testing CLCN1

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Myotonia

MGZ Medical Genetics Center
Germany
28
  • C Sequence analysis of the entire coding region

CLCN1 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early Onset Myotonia Evaluation

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

CLCN1 DNA Sequencing Test

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

Results: 21 to 40 of 45

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.