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Results: 1 to 20 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital Myopathy Panel

Genetic Services Laboratory University of Chicago
United States
3143
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SCN4A Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
41
  • C Sequence analysis of the entire coding region

Hyperkalemic Periodic Paralysis Type 1

Molecular Genetics Laboratory London Health Sciences Centre
Canada
31
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Muscle Channelopathy Gene Panel

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

Hyperkalemic Periodic Paralysis

Medical Genetics Laboratory Eulji University College of Medicine
South Korea
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

SCN4A - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
5831
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
527338
  • C Sequence analysis of the entire coding region

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Panel

PreventionGenetics, part of Exact Sciences
United States
183142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Primary Periodic Paralysis Panel

PreventionGenetics, part of Exact Sciences
United States
43
  • 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, part of Exact Sciences
United States
41
  • 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

Complete panel of pulmonology. NGS panel of 66 genes.

Genologica Medica
Spain
11566
  • C Sequence analysis of the entire coding region

Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes.

Genologica Medica
Spain
8952
  • C Sequence analysis of the entire coding region

Congenital myasthenic syndromes panel. 18-gene NGS panel.

Genologica Medica
Spain
3818
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 47

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.