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Results: 1 to 20 of 32

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

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

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • 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 Rhabdomyolysis and Metabolic Myopathy Panel

Invitae
United States
202128
  • D Deletion/duplication analysis

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

Invitae Periodic Paralysis Panel

Invitae
United States
186
  • D Deletion/duplication analysis

Invitae Treatable Neurometabolic Disorders Panel

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

Invitae Myotonia and Paramyotonia Congenita Panel

Invitae
United States
82
  • D Deletion/duplication analysis

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

Invitae Comprehensive Myopathy Panel

Invitae
United States
14370
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication 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

SCN4A MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
51
  • D Deletion/duplication analysis

Myotonia Panel

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

Comprehensive Metabolism NGS Panel

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

Childhood Epilepsy NGS Panel

Fulgent Genetics
United States
354209
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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.