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Results: 21 to 40 of 110

Tests names and labsConditionsGenes, analytes, and microbesMethods

Malignant hyperthermia susceptibility 5, 601887, Autosomal dominant (Malignant hyperthermia) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Malignant hyperthermia susceptibility 5, 601887, Autosomal dominant (Malignant hyperthermia) (CACNA1S gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Thyrotoxic periodic paralysis, susceptibility to, 1, 188580, Isolated cases; TTPP1 (Thyrotoxic periodic paralysis) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Thyrotoxic periodic paralysis, susceptibility to, 1, 188580, Isolated cases; TTPP1 (Thyrotoxic periodic paralysis) (CACNA1S gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

NeuromuscularZoom

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

Invitae Genetic Health Screen

Invitae
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae 78 Gene Actionable Disorders Panel

Invitae
United States
22075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Periodic Paralysis Panel

Invitae
United States
186
  • D Deletion/duplication analysis

RenalZoom

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

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics, part of Exact Sciences
United States
10683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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 Congenital Myopathy Panel

Invitae
United States
5836
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Malignant Hyperthermia Susceptibility Panel

PreventionGenetics, part of Exact Sciences
United States
53
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Genomic Unity® Renal Disorders Analysis

Variantyx, Inc.
United States
1425
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

CACNA1S MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • D Deletion/duplication analysis

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel 

CGC Genetics Unilabs
Portugal
17367
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 110

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.