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Results: 1 to 16 of 16

Tests names and labsConditionsGenes, analytes, and microbesMethods

CLCN1 Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
31
  • C Sequence analysis of the entire coding region

Non-dystrophic myotonia (SCN4A gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • E Sequence analysis of select exons

Muscle Channelopathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
45
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Partner Reflex to GeneSeq

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Inheritest 500 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Inheritest High Frequency panel

Integrated Genetics Westborough LabCorp
United States
109110
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Myotonia Congenita: gene deletion/duplication

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • D Deletion/duplication analysis

Myotonia Congenita: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

MYOTONIA CONGENITA (THOMSEN AND BECKER DISEASE)

Laboratorio de Genetica Clinica SL
Spain
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myotonia Panel

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

Myotonia Congenita

MGZ Medical Genetics Center
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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.